SNP Links for Protein (Select 1034671669) - SNP

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Links from Protein

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Select item 14905483051.

rs1490548305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:94760313 (GRCh38)
9:97522595 (GRCh37)
Canonical SPDI:: NC_000009.12:94760312:C:T
Gene:: AOPEP (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
HGVS:: NC_000009.12:g.94760313C>T, NC_000009.11:g.97522595C>T, NG_027833.1:g.38645C>T, NM_032823.6:c.530C>T, NM_032823.5:c.530C>T, NM_001193331.3:c.530C>T, NM_001193331.2:c.530C>T, NM_001193329.3:c.530C>T, NM_001193329.2:c.530C>T, NM_001193329.1:c.530C>T, NM_001386063.2:c.530C>T, NM_001386063.1:c.530C>T, NM_001386062.2:c.530C>T, NM_001386062.1:c.530C>T, NR_169863.2:n.718C>T, NR_169863.1:n.718C>T, NM_001386074.1:c.530C>T, NM_001386075.1:c.530C>T, NM_001386071.1:c.530C>T, NM_001386076.1:c.530C>T, NM_001386068.1:c.530C>T, NM_001386066.1:c.530C>T, NR_169865.1:n.718C>T, NR_169862.1:n.718C>T, NM_001386070.1:c.530C>T, NM_001386069.1:c.530C>T, NR_169864.1:n.718C>T, NM_001386072.1:c.530C>T, NR_169866.1:n.718C>T, NM_001386067.1:c.530C>T, XM_011519134.4:c.530C>T, XM_011519134.3:c.530C>T, XM_011519134.2:c.530C>T, XM_011519134.1:c.530C>T, XM_011519122.4:c.530C>T, XM_011519122.3:c.530C>T, XM_011519122.2:c.530C>T, XM_011519122.1:c.530C>T, XM_011519121.4:c.530C>T, XM_011519121.3:c.530C>T, XM_011519121.2:c.530C>T, XM_011519121.1:c.530C>T, XM_011519123.4:c.530C>T, XM_011519123.3:c.530C>T, XM_011519123.2:c.530C>T, XM_011519123.1:c.530C>T, XM_017015232.3:c.530C>T, XM_017015232.2:c.530C>T, XM_017015232.1:c.530C>T, XR_929854.3:n.718C>T, XR_929854.2:n.748C>T, XR_929854.1:n.813C>T, XR_929853.3:n.718C>T, XR_929853.2:n.748C>T, XR_929853.1:n.813C>T, XM_017015231.3:c.530C>T, XM_017015231.2:c.530C>T, XM_017015231.1:c.530C>T, XM_017015237.3:c.-195C>T, XM_017015237.2:c.-195C>T, XM_017015237.1:c.-195C>T, XR_929855.3:n.718C>T, XR_929855.2:n.748C>T, XR_929855.1:n.813C>T, XM_017015234.3:c.-195C>T, XM_017015234.2:c.-195C>T, XM_017015234.1:c.-195C>T, XM_017015236.3:c.-195C>T, XM_017015236.2:c.-195C>T, XM_017015236.1:c.-195C>T, XM_011519130.3:c.530C>T, XM_011519130.2:c.530C>T, XM_011519130.1:c.530C>T, XM_011519127.3:c.530C>T, XM_011519127.2:c.530C>T, XM_011519127.1:c.530C>T, XR_929857.3:n.718C>T, XR_929857.2:n.748C>T, XR_929857.1:n.813C>T, XR_007061365.1:n.718C>T, XM_047423980.1:c.530C>T, XM_047423988.1:c.-195C>T, XM_047423985.1:c.530C>T, XR_007061364.1:n.718C>T, XM_047423987.1:c.-195C>T, XR_007061363.1:n.718C>T, XM_047423986.1:c.-195C>T, XM_047423978.1:c.530C>T, XM_047423979.1:c.530C>T, XM_047423982.1:c.530C>T, XM_047423984.1:c.530C>T, XM_047423983.1:c.530C>T, XM_047423981.1:c.530C>T, NM_001193330.1:c.530C>T, NP_116212.3:p.Thr177Met, NP_001180260.1:p.Thr177Met, NP_001180258.1:p.Thr177Met, NP_001372992.1:p.Thr177Met, NP_001372991.1:p.Thr177Met, NP_001373003.1:p.Thr177Met, NP_001373004.1:p.Thr177Met, NP_001373000.1:p.Thr177Met, NP_001373005.1:p.Thr177Met, NP_001372997.1:p.Thr177Met, NP_001372995.1:p.Thr177Met, NP_001372999.1:p.Thr177Met, NP_001372998.1:p.Thr177Met, NP_001373001.1:p.Thr177Met, NP_001372996.1:p.Thr177Met, XP_011517436.1:p.Thr177Met, XP_011517424.1:p.Thr177Met, XP_011517423.1:p.Thr177Met, XP_011517425.1:p.Thr177Met, XP_016870721.1:p.Thr177Met, XP_016870720.1:p.Thr177Met, XP_011517432.1:p.Thr177Met, XP_011517429.1:p.Thr177Met, XP_047279936.1:p.Thr177Met, XP_047279941.1:p.Thr177Met, XP_047279934.1:p.Thr177Met, XP_047279935.1:p.Thr177Met, XP_047279938.1:p.Thr177Met, XP_047279940.1:p.Thr177Met, XP_047279939.1:p.Thr177Met, XP_047279937.1:p.Thr177Met

Select item 14894870102.

rs1489487010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:94760304 (GRCh38)
9:97522586 (GRCh37)
Canonical SPDI:: NC_000009.12:94760303:C:T
Gene:: AOPEP (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.94760304C>T, NC_000009.11:g.97522586C>T, NG_027833.1:g.38636C>T, NM_032823.6:c.521C>T, NM_032823.5:c.521C>T, NM_001193331.3:c.521C>T, NM_001193331.2:c.521C>T, NM_001193329.3:c.521C>T, NM_001193329.2:c.521C>T, NM_001193329.1:c.521C>T, NM_001386063.2:c.521C>T, NM_001386063.1:c.521C>T, NM_001386062.2:c.521C>T, NM_001386062.1:c.521C>T, NR_169863.2:n.709C>T, NR_169863.1:n.709C>T, NM_001386074.1:c.521C>T, NM_001386075.1:c.521C>T, NM_001386071.1:c.521C>T, NM_001386076.1:c.521C>T, NM_001386068.1:c.521C>T, NM_001386066.1:c.521C>T, NR_169865.1:n.709C>T, NR_169862.1:n.709C>T, NM_001386070.1:c.521C>T, NM_001386069.1:c.521C>T, NR_169864.1:n.709C>T, NM_001386072.1:c.521C>T, NR_169866.1:n.709C>T, NM_001386067.1:c.521C>T, XM_011519134.4:c.521C>T, XM_011519134.3:c.521C>T, XM_011519134.2:c.521C>T, XM_011519134.1:c.521C>T, XM_011519122.4:c.521C>T, XM_011519122.3:c.521C>T, XM_011519122.2:c.521C>T, XM_011519122.1:c.521C>T, XM_011519121.4:c.521C>T, XM_011519121.3:c.521C>T, XM_011519121.2:c.521C>T, XM_011519121.1:c.521C>T, XM_011519123.4:c.521C>T, XM_011519123.3:c.521C>T, XM_011519123.2:c.521C>T, XM_011519123.1:c.521C>T, XM_017015232.3:c.521C>T, XM_017015232.2:c.521C>T, XM_017015232.1:c.521C>T, XR_929854.3:n.709C>T, XR_929854.2:n.739C>T, XR_929854.1:n.804C>T, XR_929853.3:n.709C>T, XR_929853.2:n.739C>T, XR_929853.1:n.804C>T, XM_017015231.3:c.521C>T, XM_017015231.2:c.521C>T, XM_017015231.1:c.521C>T, XM_017015237.3:c.-204C>T, XM_017015237.2:c.-204C>T, XM_017015237.1:c.-204C>T, XR_929855.3:n.709C>T, XR_929855.2:n.739C>T, XR_929855.1:n.804C>T, XM_017015234.3:c.-204C>T, XM_017015234.2:c.-204C>T, XM_017015234.1:c.-204C>T, XM_017015236.3:c.-204C>T, XM_017015236.2:c.-204C>T, XM_017015236.1:c.-204C>T, XM_011519130.3:c.521C>T, XM_011519130.2:c.521C>T, XM_011519130.1:c.521C>T, XM_011519127.3:c.521C>T, XM_011519127.2:c.521C>T, XM_011519127.1:c.521C>T, XR_929857.3:n.709C>T, XR_929857.2:n.739C>T, XR_929857.1:n.804C>T, XR_007061365.1:n.709C>T, XM_047423980.1:c.521C>T, XM_047423988.1:c.-204C>T, XM_047423985.1:c.521C>T, XR_007061364.1:n.709C>T, XM_047423987.1:c.-204C>T, XR_007061363.1:n.709C>T, XM_047423986.1:c.-204C>T, XM_047423978.1:c.521C>T, XM_047423979.1:c.521C>T, XM_047423982.1:c.521C>T, XM_047423984.1:c.521C>T, XM_047423983.1:c.521C>T, XM_047423981.1:c.521C>T, NM_001193330.1:c.521C>T, NP_116212.3:p.Pro174Leu, NP_001180260.1:p.Pro174Leu, NP_001180258.1:p.Pro174Leu, NP_001372992.1:p.Pro174Leu, NP_001372991.1:p.Pro174Leu, NP_001373003.1:p.Pro174Leu, NP_001373004.1:p.Pro174Leu, NP_001373000.1:p.Pro174Leu, NP_001373005.1:p.Pro174Leu, NP_001372997.1:p.Pro174Leu, NP_001372995.1:p.Pro174Leu, NP_001372999.1:p.Pro174Leu, NP_001372998.1:p.Pro174Leu, NP_001373001.1:p.Pro174Leu, NP_001372996.1:p.Pro174Leu, XP_011517436.1:p.Pro174Leu, XP_011517424.1:p.Pro174Leu, XP_011517423.1:p.Pro174Leu, XP_011517425.1:p.Pro174Leu, XP_016870721.1:p.Pro174Leu, XP_016870720.1:p.Pro174Leu, XP_011517432.1:p.Pro174Leu, XP_011517429.1:p.Pro174Leu, XP_047279936.1:p.Pro174Leu, XP_047279941.1:p.Pro174Leu, XP_047279934.1:p.Pro174Leu, XP_047279935.1:p.Pro174Leu, XP_047279938.1:p.Pro174Leu, XP_047279940.1:p.Pro174Leu, XP_047279939.1:p.Pro174Leu, XP_047279937.1:p.Pro174Leu

Select item 14884624693.

rs1488462469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:95005555 (GRCh38)
9:97767837 (GRCh37)
Canonical SPDI:: NC_000009.12:95005554:T:C
Gene:: AOPEP (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.95005555T>C, NC_000009.11:g.97767837T>C, NG_027833.1:g.283887T>C, NM_032823.6:c.1757T>C, NM_032823.5:c.1757T>C, NM_001193329.3:c.2054T>C, NM_001193329.2:c.2054T>C, NM_001193329.1:c.2054T>C, NM_001386062.2:c.1733T>C, NM_001386062.1:c.1733T>C, NR_169863.2:n.1901T>C, NR_169863.1:n.1901T>C, NM_001386074.1:c.2054T>C, NM_001386075.1:c.2054T>C, NM_001386076.1:c.2054T>C, NM_001386068.1:c.2054T>C, NM_001386066.1:c.2054T>C, NR_169865.1:n.2031T>C, NR_169862.1:n.2135T>C, NM_001386070.1:c.2054T>C, NR_169867.1:n.667T>C, NM_001386069.1:c.1757T>C, NR_169864.1:n.1901T>C, NR_169866.1:n.1734T>C, NM_001386067.1:c.1532T>C, NM_001386061.1:c.764T>C, XM_011519121.4:c.2054T>C, XM_011519121.3:c.2054T>C, XM_011519121.2:c.2054T>C, XM_011519121.1:c.2054T>C, XM_011519123.4:c.2054T>C, XM_011519123.3:c.2054T>C, XM_011519123.2:c.2054T>C, XM_011519123.1:c.2054T>C, XM_017015232.3:c.2054T>C, XM_017015232.2:c.2054T>C, XM_017015232.1:c.2054T>C, XR_929854.3:n.2242T>C, XR_929854.2:n.2272T>C, XR_929854.1:n.2337T>C, XR_929853.3:n.2242T>C, XR_929853.2:n.2272T>C, XR_929853.1:n.2337T>C, XM_017015231.3:c.1757T>C, XM_017015231.2:c.1757T>C, XM_017015231.1:c.1757T>C, XM_017015237.3:c.866T>C, XM_017015237.2:c.866T>C, XM_017015237.1:c.866T>C, XR_929855.3:n.2242T>C, XR_929855.2:n.2272T>C, XR_929855.1:n.2337T>C, XM_017015234.3:c.1163T>C, XM_017015234.2:c.1163T>C, XM_017015234.1:c.1163T>C, XM_017015236.3:c.866T>C, XM_017015236.2:c.866T>C, XM_017015236.1:c.866T>C, XM_011519132.2:c.914T>C, XM_011519132.1:c.914T>C, XM_047423980.1:c.2217T>C, XM_047423988.1:c.1163T>C, XM_047423985.1:c.1757T>C, XR_007061364.1:n.2242T>C, XM_047423987.1:c.1163T>C, XR_007061363.1:n.2405T>C, XM_047423986.1:c.1163T>C, XM_047423978.1:c.2054T>C, XM_047423979.1:c.1757T>C, XM_047423982.1:c.2217T>C, XM_047423984.1:c.1757T>C, XM_047423983.1:c.2217T>C, XM_047423981.1:c.2217T>C, NM_001193330.1:c.1757T>C, NP_116212.3:p.Ile586Thr, NP_001180258.1:p.Ile685Thr, NP_001372991.1:p.Ile578Thr, NP_001373003.1:p.Ile685Thr, NP_001373004.1:p.Ile685Thr, NP_001373005.1:p.Ile685Thr, NP_001372997.1:p.Ile685Thr, NP_001372995.1:p.Ile685Thr, NP_001372999.1:p.Ile685Thr, NP_001372998.1:p.Ile586Thr, NP_001372996.1:p.Ile511Thr, NP_001372990.1:p.Ile255Thr, XP_011517423.1:p.Ile685Thr, XP_011517425.1:p.Ile685Thr, XP_016870721.1:p.Ile685Thr, XP_016870720.1:p.Ile586Thr, XP_016870726.1:p.Ile289Thr, XP_016870723.1:p.Ile388Thr, XP_016870725.1:p.Ile289Thr, XP_011517434.1:p.Ile305Thr, XP_047279944.1:p.Ile388Thr, XP_047279941.1:p.Ile586Thr, XP_047279943.1:p.Ile388Thr, XP_047279942.1:p.Ile388Thr, XP_047279934.1:p.Ile685Thr, XP_047279935.1:p.Ile586Thr, XP_047279940.1:p.Ile586Thr

Select item 14866436824.

rs1486643682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:95005160 (GRCh38)
9:97767442 (GRCh37)
Canonical SPDI:: NC_000009.12:95005159:G:A
Gene:: AOPEP (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.95005160G>A, NC_000009.11:g.97767442G>A, NG_027833.1:g.283492G>A, NM_032823.6:c.1683G>A, NM_032823.5:c.1683G>A, NM_001193329.3:c.1980G>A, NM_001193329.2:c.1980G>A, NM_001193329.1:c.1980G>A, NM_001386062.2:c.1659G>A, NM_001386062.1:c.1659G>A, NR_169863.2:n.1827G>A, NR_169863.1:n.1827G>A, NM_001386074.1:c.1980G>A, NM_001386075.1:c.1980G>A, NM_001386076.1:c.1980G>A, NM_001386068.1:c.1980G>A, NM_001386066.1:c.1980G>A, NR_169865.1:n.1957G>A, NR_169862.1:n.2061G>A, NM_001386070.1:c.1980G>A, NR_169867.1:n.593G>A, NM_001386069.1:c.1683G>A, NR_169864.1:n.1827G>A, NR_169866.1:n.1660G>A, NM_001386067.1:c.1458G>A, NM_001386061.1:c.690G>A, XM_011519121.4:c.1980G>A, XM_011519121.3:c.1980G>A, XM_011519121.2:c.1980G>A, XM_011519121.1:c.1980G>A, XM_011519123.4:c.1980G>A, XM_011519123.3:c.1980G>A, XM_011519123.2:c.1980G>A, XM_011519123.1:c.1980G>A, XM_017015232.3:c.1980G>A, XM_017015232.2:c.1980G>A, XM_017015232.1:c.1980G>A, XR_929854.3:n.2168G>A, XR_929854.2:n.2198G>A, XR_929854.1:n.2263G>A, XR_929853.3:n.2168G>A, XR_929853.2:n.2198G>A, XR_929853.1:n.2263G>A, XM_017015231.3:c.1683G>A, XM_017015231.2:c.1683G>A, XM_017015231.1:c.1683G>A, XM_017015237.3:c.792G>A, XM_017015237.2:c.792G>A, XM_017015237.1:c.792G>A, XR_929855.3:n.2168G>A, XR_929855.2:n.2198G>A, XR_929855.1:n.2263G>A, XM_017015234.3:c.1089G>A, XM_017015234.2:c.1089G>A, XM_017015234.1:c.1089G>A, XM_017015236.3:c.792G>A, XM_017015236.2:c.792G>A, XM_017015236.1:c.792G>A, XM_011519132.2:c.840G>A, XM_011519132.1:c.840G>A, XM_047423980.1:c.1980G>A, XM_047423988.1:c.1089G>A, XM_047423985.1:c.1683G>A, XR_007061364.1:n.2168G>A, XM_047423987.1:c.1089G>A, XR_007061363.1:n.2168G>A, XM_047423986.1:c.1089G>A, XM_047423978.1:c.1980G>A, XM_047423979.1:c.1683G>A, XM_047423982.1:c.1980G>A, XM_047423984.1:c.1683G>A, XM_047423983.1:c.1980G>A, XM_047423981.1:c.1980G>A, NM_001193330.1:c.1683G>A

Select item 14847353645.

rs1484735364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:94955977 (GRCh38)
9:97718259 (GRCh37)
Canonical SPDI:: NC_000009.12:94955976:T:C
Gene:: AOPEP (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.94955977T>C, NC_000009.11:g.97718259T>C, NG_027833.1:g.234309T>C, NM_032823.6:c.1537T>C, NM_032823.5:c.1537T>C, NM_001193329.3:c.1834T>C, NM_001193329.2:c.1834T>C, NM_001193329.1:c.1834T>C, NM_001386063.2:c.1834T>C, NM_001386063.1:c.1834T>C, NM_001386062.2:c.1513T>C, NM_001386062.1:c.1513T>C, NR_169863.2:n.1725T>C, NR_169863.1:n.1725T>C, NM_001386074.1:c.1834T>C, NM_001386075.1:c.1834T>C, NM_001386076.1:c.1834T>C, NM_001386068.1:c.1834T>C, NM_001386066.1:c.1834T>C, NR_169865.1:n.1855T>C, NR_169862.1:n.1915T>C, NM_001386070.1:c.1834T>C, NR_169867.1:n.491T>C, NM_001386069.1:c.1537T>C, NR_169864.1:n.1725T>C, NR_169866.1:n.1558T>C, NM_001386061.1:c.544T>C, XM_011519122.4:c.1834T>C, XM_011519122.3:c.1834T>C, XM_011519122.2:c.1834T>C, XM_011519122.1:c.1834T>C, XM_011519121.4:c.1834T>C, XM_011519121.3:c.1834T>C, XM_011519121.2:c.1834T>C, XM_011519121.1:c.1834T>C, XM_011519123.4:c.1834T>C, XM_011519123.3:c.1834T>C, XM_011519123.2:c.1834T>C, XM_011519123.1:c.1834T>C, XM_017015232.3:c.1834T>C, XM_017015232.2:c.1834T>C, XM_017015232.1:c.1834T>C, XR_929854.3:n.2022T>C, XR_929854.2:n.2052T>C, XR_929854.1:n.2117T>C, XR_929853.3:n.2022T>C, XR_929853.2:n.2052T>C, XR_929853.1:n.2117T>C, XM_017015231.3:c.1537T>C, XM_017015231.2:c.1537T>C, XM_017015231.1:c.1537T>C, XM_017015237.3:c.646T>C, XM_017015237.2:c.646T>C, XM_017015237.1:c.646T>C, XR_929855.3:n.2022T>C, XR_929855.2:n.2052T>C, XR_929855.1:n.2117T>C, XM_017015234.3:c.943T>C, XM_017015234.2:c.943T>C, XM_017015234.1:c.943T>C, XM_017015236.3:c.646T>C, XM_017015236.2:c.646T>C, XM_017015236.1:c.646T>C, XM_011519127.3:c.1834T>C, XM_011519127.2:c.1834T>C, XM_011519127.1:c.1834T>C, XM_011519132.2:c.694T>C, XM_011519132.1:c.694T>C, XM_047423980.1:c.1834T>C, XM_047423988.1:c.943T>C, XM_047423985.1:c.1537T>C, XR_007061364.1:n.2022T>C, XM_047423987.1:c.943T>C, XR_007061363.1:n.2022T>C, XM_047423986.1:c.943T>C, XM_047423978.1:c.1834T>C, XM_047423979.1:c.1537T>C, XM_047423982.1:c.1834T>C, XM_047423984.1:c.1537T>C, XM_047423983.1:c.1834T>C, XM_047423981.1:c.1834T>C, NM_001193330.1:c.1537T>C, NP_116212.3:p.Phe513Leu, NP_001180258.1:p.Phe612Leu, NP_001372992.1:p.Phe612Leu, NP_001372991.1:p.Phe505Leu, NP_001373003.1:p.Phe612Leu, NP_001373004.1:p.Phe612Leu, NP_001373005.1:p.Phe612Leu, NP_001372997.1:p.Phe612Leu, NP_001372995.1:p.Phe612Leu, NP_001372999.1:p.Phe612Leu, NP_001372998.1:p.Phe513Leu, NP_001372990.1:p.Phe182Leu, XP_011517424.1:p.Phe612Leu, XP_011517423.1:p.Phe612Leu, XP_011517425.1:p.Phe612Leu, XP_016870721.1:p.Phe612Leu, XP_016870720.1:p.Phe513Leu, XP_016870726.1:p.Phe216Leu, XP_016870723.1:p.Phe315Leu, XP_016870725.1:p.Phe216Leu, XP_011517429.1:p.Phe612Leu, XP_011517434.1:p.Phe232Leu, XP_047279936.1:p.Phe612Leu, XP_047279944.1:p.Phe315Leu, XP_047279941.1:p.Phe513Leu, XP_047279943.1:p.Phe315Leu, XP_047279942.1:p.Phe315Leu, XP_047279934.1:p.Phe612Leu, XP_047279935.1:p.Phe513Leu, XP_047279938.1:p.Phe612Leu, XP_047279940.1:p.Phe513Leu, XP_047279939.1:p.Phe612Leu, XP_047279937.1:p.Phe612Leu

Select item 14829491076.

rs1482949107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:94760004 (GRCh38)
9:97522286 (GRCh37)
Canonical SPDI:: NC_000009.12:94760003:T:C,NC_000009.12:94760003:T:G
Gene:: AOPEP (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.000106/2 (TOMMO)
HGVS:: NC_000009.12:g.94760004T>C, NC_000009.12:g.94760004T>G, NC_000009.11:g.97522286T>C, NC_000009.11:g.97522286T>G, NG_027833.1:g.38336T>C, NG_027833.1:g.38336T>G, NM_032823.6:c.221T>C, NM_032823.6:c.221T>G, NM_032823.5:c.221T>C, NM_032823.5:c.221T>G, NM_001193331.3:c.221T>C, NM_001193331.3:c.221T>G, NM_001193331.2:c.221T>C, NM_001193331.2:c.221T>G, NM_001193329.3:c.221T>C, NM_001193329.3:c.221T>G, NM_001193329.2:c.221T>C, NM_001193329.2:c.221T>G, NM_001193329.1:c.221T>C, NM_001193329.1:c.221T>G, NM_001386063.2:c.221T>C, NM_001386063.2:c.221T>G, NM_001386063.1:c.221T>C, NM_001386063.1:c.221T>G, NM_001386062.2:c.221T>C, NM_001386062.2:c.221T>G, NM_001386062.1:c.221T>C, NM_001386062.1:c.221T>G, NR_169863.2:n.409T>C, NR_169863.2:n.409T>G, NR_169863.1:n.409T>C, NR_169863.1:n.409T>G, NM_001386074.1:c.221T>C, NM_001386074.1:c.221T>G, NM_001386075.1:c.221T>C, NM_001386075.1:c.221T>G, NM_001386071.1:c.221T>C, NM_001386071.1:c.221T>G, NM_001386076.1:c.221T>C, NM_001386076.1:c.221T>G, NM_001386068.1:c.221T>C, NM_001386068.1:c.221T>G, NM_001386066.1:c.221T>C, NM_001386066.1:c.221T>G, NR_169865.1:n.409T>C, NR_169865.1:n.409T>G, NR_169862.1:n.409T>C, NR_169862.1:n.409T>G, NM_001386070.1:c.221T>C, NM_001386070.1:c.221T>G, NM_001386069.1:c.221T>C, NM_001386069.1:c.221T>G, NR_169864.1:n.409T>C, NR_169864.1:n.409T>G, NM_001386072.1:c.221T>C, NM_001386072.1:c.221T>G, NR_169866.1:n.409T>C, NR_169866.1:n.409T>G, NM_001386067.1:c.221T>C, NM_001386067.1:c.221T>G, XM_011519134.4:c.221T>C, XM_011519134.4:c.221T>G, XM_011519134.3:c.221T>C, XM_011519134.3:c.221T>G, XM_011519134.2:c.221T>C, XM_011519134.2:c.221T>G, XM_011519134.1:c.221T>C, XM_011519134.1:c.221T>G, XM_011519122.4:c.221T>C, XM_011519122.4:c.221T>G, XM_011519122.3:c.221T>C, XM_011519122.3:c.221T>G, XM_011519122.2:c.221T>C, XM_011519122.2:c.221T>G, XM_011519122.1:c.221T>C, XM_011519122.1:c.221T>G, XM_011519121.4:c.221T>C, XM_011519121.4:c.221T>G, XM_011519121.3:c.221T>C, XM_011519121.3:c.221T>G, XM_011519121.2:c.221T>C, XM_011519121.2:c.221T>G, XM_011519121.1:c.221T>C, XM_011519121.1:c.221T>G, XM_011519123.4:c.221T>C, XM_011519123.4:c.221T>G, XM_011519123.3:c.221T>C, XM_011519123.3:c.221T>G, XM_011519123.2:c.221T>C, XM_011519123.2:c.221T>G, XM_011519123.1:c.221T>C, XM_011519123.1:c.221T>G, XM_017015232.3:c.221T>C, XM_017015232.3:c.221T>G, XM_017015232.2:c.221T>C, XM_017015232.2:c.221T>G, XM_017015232.1:c.221T>C, XM_017015232.1:c.221T>G, XR_929854.3:n.409T>C, XR_929854.3:n.409T>G, XR_929854.2:n.439T>C, XR_929854.2:n.439T>G, XR_929854.1:n.504T>C, XR_929854.1:n.504T>G, XR_929853.3:n.409T>C, XR_929853.3:n.409T>G, XR_929853.2:n.439T>C, XR_929853.2:n.439T>G, XR_929853.1:n.504T>C, XR_929853.1:n.504T>G, XM_017015231.3:c.221T>C, XM_017015231.3:c.221T>G, XM_017015231.2:c.221T>C, XM_017015231.2:c.221T>G, XM_017015231.1:c.221T>C, XM_017015231.1:c.221T>G, XM_017015237.3:c.-504T>C, XM_017015237.3:c.-504T>G, XM_017015237.2:c.-504T>C, XM_017015237.2:c.-504T>G, XM_017015237.1:c.-504T>C, XM_017015237.1:c.-504T>G, XR_929855.3:n.409T>C, XR_929855.3:n.409T>G, XR_929855.2:n.439T>C, XR_929855.2:n.439T>G, XR_929855.1:n.504T>C, XR_929855.1:n.504T>G, XM_017015234.3:c.-504T>C, XM_017015234.3:c.-504T>G, XM_017015234.2:c.-504T>C, XM_017015234.2:c.-504T>G, XM_017015234.1:c.-504T>C, XM_017015234.1:c.-504T>G, XM_017015236.3:c.-504T>C, XM_017015236.3:c.-504T>G, XM_017015236.2:c.-504T>C, XM_017015236.2:c.-504T>G, XM_017015236.1:c.-504T>C, XM_017015236.1:c.-504T>G, XM_011519130.3:c.221T>C, XM_011519130.3:c.221T>G, XM_011519130.2:c.221T>C, XM_011519130.2:c.221T>G, XM_011519130.1:c.221T>C, XM_011519130.1:c.221T>G, XM_011519127.3:c.221T>C, XM_011519127.3:c.221T>G, XM_011519127.2:c.221T>C, XM_011519127.2:c.221T>G, XM_011519127.1:c.221T>C, XM_011519127.1:c.221T>G, XR_929857.3:n.409T>C, XR_929857.3:n.409T>G, XR_929857.2:n.439T>C, XR_929857.2:n.439T>G, XR_929857.1:n.504T>C, XR_929857.1:n.504T>G, XR_007061365.1:n.409T>C, XR_007061365.1:n.409T>G, XM_047423980.1:c.221T>C, XM_047423980.1:c.221T>G, XM_047423988.1:c.-504T>C, XM_047423988.1:c.-504T>G, XM_047423985.1:c.221T>C, XM_047423985.1:c.221T>G, XR_007061364.1:n.409T>C, XR_007061364.1:n.409T>G, XM_047423987.1:c.-504T>C, XM_047423987.1:c.-504T>G, XR_007061363.1:n.409T>C, XR_007061363.1:n.409T>G, XM_047423986.1:c.-504T>C, XM_047423986.1:c.-504T>G, XM_047423978.1:c.221T>C, XM_047423978.1:c.221T>G, XM_047423979.1:c.221T>C, XM_047423979.1:c.221T>G, XM_047423982.1:c.221T>C, XM_047423982.1:c.221T>G, XM_047423984.1:c.221T>C, XM_047423984.1:c.221T>G, XM_047423983.1:c.221T>C, XM_047423983.1:c.221T>G, XM_047423981.1:c.221T>C, XM_047423981.1:c.221T>G, NM_001193330.1:c.221T>C, NM_001193330.1:c.221T>G, NP_116212.3:p.Phe74Ser, NP_116212.3:p.Phe74Cys, NP_001180260.1:p.Phe74Ser, NP_001180260.1:p.Phe74Cys, NP_001180258.1:p.Phe74Ser, NP_001180258.1:p.Phe74Cys, NP_001372992.1:p.Phe74Ser, NP_001372992.1:p.Phe74Cys, NP_001372991.1:p.Phe74Ser, NP_001372991.1:p.Phe74Cys, NP_001373003.1:p.Phe74Ser, NP_001373003.1:p.Phe74Cys, NP_001373004.1:p.Phe74Ser, NP_001373004.1:p.Phe74Cys, NP_001373000.1:p.Phe74Ser, NP_001373000.1:p.Phe74Cys, NP_001373005.1:p.Phe74Ser, NP_001373005.1:p.Phe74Cys, NP_001372997.1:p.Phe74Ser, NP_001372997.1:p.Phe74Cys, NP_001372995.1:p.Phe74Ser, NP_001372995.1:p.Phe74Cys, NP_001372999.1:p.Phe74Ser, NP_001372999.1:p.Phe74Cys, NP_001372998.1:p.Phe74Ser, NP_001372998.1:p.Phe74Cys, NP_001373001.1:p.Phe74Ser, NP_001373001.1:p.Phe74Cys, NP_001372996.1:p.Phe74Ser, NP_001372996.1:p.Phe74Cys, XP_011517436.1:p.Phe74Ser, XP_011517436.1:p.Phe74Cys, XP_011517424.1:p.Phe74Ser, XP_011517424.1:p.Phe74Cys, XP_011517423.1:p.Phe74Ser, XP_011517423.1:p.Phe74Cys, XP_011517425.1:p.Phe74Ser, XP_011517425.1:p.Phe74Cys, XP_016870721.1:p.Phe74Ser, XP_016870721.1:p.Phe74Cys, XP_016870720.1:p.Phe74Ser, XP_016870720.1:p.Phe74Cys, XP_011517432.1:p.Phe74Ser, XP_011517432.1:p.Phe74Cys, XP_011517429.1:p.Phe74Ser, XP_011517429.1:p.Phe74Cys, XP_047279936.1:p.Phe74Ser, XP_047279936.1:p.Phe74Cys, XP_047279941.1:p.Phe74Ser, XP_047279941.1:p.Phe74Cys, XP_047279934.1:p.Phe74Ser, XP_047279934.1:p.Phe74Cys, XP_047279935.1:p.Phe74Ser, XP_047279935.1:p.Phe74Cys, XP_047279938.1:p.Phe74Ser, XP_047279938.1:p.Phe74Cys, XP_047279940.1:p.Phe74Ser, XP_047279940.1:p.Phe74Cys, XP_047279939.1:p.Phe74Ser, XP_047279939.1:p.Phe74Cys, XP_047279937.1:p.Phe74Ser, XP_047279937.1:p.Phe74Cys

Select item 14819643787.

rs1481964378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:94760412 (GRCh38)
9:97522694 (GRCh37)
Canonical SPDI:: NC_000009.12:94760411:G:T
Gene:: AOPEP (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.94760412G>T, NC_000009.11:g.97522694G>T, NG_027833.1:g.38744G>T, NM_032823.6:c.629G>T, NM_032823.5:c.629G>T, NM_001193331.3:c.629G>T, NM_001193331.2:c.629G>T, NM_001193329.3:c.629G>T, NM_001193329.2:c.629G>T, NM_001193329.1:c.629G>T, NM_001386063.2:c.629G>T, NM_001386063.1:c.629G>T, NM_001386062.2:c.629G>T, NM_001386062.1:c.629G>T, NR_169863.2:n.817G>T, NR_169863.1:n.817G>T, NM_001386074.1:c.629G>T, NM_001386075.1:c.629G>T, NM_001386071.1:c.629G>T, NM_001386076.1:c.629G>T, NM_001386068.1:c.629G>T, NM_001386066.1:c.629G>T, NR_169865.1:n.817G>T, NR_169862.1:n.817G>T, NM_001386070.1:c.629G>T, NM_001386069.1:c.629G>T, NR_169864.1:n.817G>T, NM_001386072.1:c.629G>T, NR_169866.1:n.817G>T, NM_001386067.1:c.629G>T, XM_011519134.4:c.629G>T, XM_011519134.3:c.629G>T, XM_011519134.2:c.629G>T, XM_011519134.1:c.629G>T, XM_011519122.4:c.629G>T, XM_011519122.3:c.629G>T, XM_011519122.2:c.629G>T, XM_011519122.1:c.629G>T, XM_011519121.4:c.629G>T, XM_011519121.3:c.629G>T, XM_011519121.2:c.629G>T, XM_011519121.1:c.629G>T, XM_011519123.4:c.629G>T, XM_011519123.3:c.629G>T, XM_011519123.2:c.629G>T, XM_011519123.1:c.629G>T, XM_017015232.3:c.629G>T, XM_017015232.2:c.629G>T, XM_017015232.1:c.629G>T, XR_929854.3:n.817G>T, XR_929854.2:n.847G>T, XR_929854.1:n.912G>T, XR_929853.3:n.817G>T, XR_929853.2:n.847G>T, XR_929853.1:n.912G>T, XM_017015231.3:c.629G>T, XM_017015231.2:c.629G>T, XM_017015231.1:c.629G>T, XM_017015237.3:c.-96G>T, XM_017015237.2:c.-96G>T, XM_017015237.1:c.-96G>T, XR_929855.3:n.817G>T, XR_929855.2:n.847G>T, XR_929855.1:n.912G>T, XM_017015234.3:c.-96G>T, XM_017015234.2:c.-96G>T, XM_017015234.1:c.-96G>T, XM_017015236.3:c.-96G>T, XM_017015236.2:c.-96G>T, XM_017015236.1:c.-96G>T, XM_011519130.3:c.629G>T, XM_011519130.2:c.629G>T, XM_011519130.1:c.629G>T, XM_011519127.3:c.629G>T, XM_011519127.2:c.629G>T, XM_011519127.1:c.629G>T, XR_929857.3:n.817G>T, XR_929857.2:n.847G>T, XR_929857.1:n.912G>T, XR_007061365.1:n.817G>T, XM_047423980.1:c.629G>T, XM_047423988.1:c.-96G>T, XM_047423985.1:c.629G>T, XR_007061364.1:n.817G>T, XM_047423987.1:c.-96G>T, XR_007061363.1:n.817G>T, XM_047423986.1:c.-96G>T, XM_047423978.1:c.629G>T, XM_047423979.1:c.629G>T, XM_047423982.1:c.629G>T, XM_047423984.1:c.629G>T, XM_047423983.1:c.629G>T, XM_047423981.1:c.629G>T, NM_001193330.1:c.629G>T, NP_116212.3:p.Ser210Ile, NP_001180260.1:p.Ser210Ile, NP_001180258.1:p.Ser210Ile, NP_001372992.1:p.Ser210Ile, NP_001372991.1:p.Ser210Ile, NP_001373003.1:p.Ser210Ile, NP_001373004.1:p.Ser210Ile, NP_001373000.1:p.Ser210Ile, NP_001373005.1:p.Ser210Ile, NP_001372997.1:p.Ser210Ile, NP_001372995.1:p.Ser210Ile, NP_001372999.1:p.Ser210Ile, NP_001372998.1:p.Ser210Ile, NP_001373001.1:p.Ser210Ile, NP_001372996.1:p.Ser210Ile, XP_011517436.1:p.Ser210Ile, XP_011517424.1:p.Ser210Ile, XP_011517423.1:p.Ser210Ile, XP_011517425.1:p.Ser210Ile, XP_016870721.1:p.Ser210Ile, XP_016870720.1:p.Ser210Ile, XP_011517432.1:p.Ser210Ile, XP_011517429.1:p.Ser210Ile, XP_047279936.1:p.Ser210Ile, XP_047279941.1:p.Ser210Ile, XP_047279934.1:p.Ser210Ile, XP_047279935.1:p.Ser210Ile, XP_047279938.1:p.Ser210Ile, XP_047279940.1:p.Ser210Ile, XP_047279939.1:p.Ser210Ile, XP_047279937.1:p.Ser210Ile

Select item 14812495798.

rs1481249579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:94759801 (GRCh38)
9:97522083 (GRCh37)
Canonical SPDI:: NC_000009.12:94759800:C:A
Gene:: AOPEP (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.94759801C>A, NC_000009.11:g.97522083C>A, NG_027833.1:g.38133C>A, NM_032823.6:c.18C>A, NM_032823.5:c.18C>A, NM_001193331.3:c.18C>A, NM_001193331.2:c.18C>A, NM_001193329.3:c.18C>A, NM_001193329.2:c.18C>A, NM_001193329.1:c.18C>A, NM_001386063.2:c.18C>A, NM_001386063.1:c.18C>A, NM_001386062.2:c.18C>A, NM_001386062.1:c.18C>A, NR_169863.2:n.206C>A, NR_169863.1:n.206C>A, NM_001386074.1:c.18C>A, NM_001386075.1:c.18C>A, NM_001386071.1:c.18C>A, NM_001386076.1:c.18C>A, NM_001386068.1:c.18C>A, NM_001386066.1:c.18C>A, NR_169865.1:n.206C>A, NR_169862.1:n.206C>A, NM_001386070.1:c.18C>A, NM_001386069.1:c.18C>A, NR_169864.1:n.206C>A, NM_001386072.1:c.18C>A, NR_169866.1:n.206C>A, NM_001386067.1:c.18C>A, XM_011519134.4:c.18C>A, XM_011519134.3:c.18C>A, XM_011519134.2:c.18C>A, XM_011519134.1:c.18C>A, XM_011519122.4:c.18C>A, XM_011519122.3:c.18C>A, XM_011519122.2:c.18C>A, XM_011519122.1:c.18C>A, XM_011519121.4:c.18C>A, XM_011519121.3:c.18C>A, XM_011519121.2:c.18C>A, XM_011519121.1:c.18C>A, XM_011519123.4:c.18C>A, XM_011519123.3:c.18C>A, XM_011519123.2:c.18C>A, XM_011519123.1:c.18C>A, XM_017015232.3:c.18C>A, XM_017015232.2:c.18C>A, XM_017015232.1:c.18C>A, XR_929854.3:n.206C>A, XR_929854.2:n.236C>A, XR_929854.1:n.301C>A, XR_929853.3:n.206C>A, XR_929853.2:n.236C>A, XR_929853.1:n.301C>A, XM_017015231.3:c.18C>A, XM_017015231.2:c.18C>A, XM_017015231.1:c.18C>A, XM_017015237.3:c.-707C>A, XM_017015237.2:c.-707C>A, XM_017015237.1:c.-707C>A, XR_929855.3:n.206C>A, XR_929855.2:n.236C>A, XR_929855.1:n.301C>A, XM_017015234.3:c.-707C>A, XM_017015234.2:c.-707C>A, XM_017015234.1:c.-707C>A, XM_017015236.3:c.-707C>A, XM_017015236.2:c.-707C>A, XM_017015236.1:c.-707C>A, XM_011519130.3:c.18C>A, XM_011519130.2:c.18C>A, XM_011519130.1:c.18C>A, XM_011519127.3:c.18C>A, XM_011519127.2:c.18C>A, XM_011519127.1:c.18C>A, XR_929857.3:n.206C>A, XR_929857.2:n.236C>A, XR_929857.1:n.301C>A, XR_007061365.1:n.206C>A, XM_047423980.1:c.18C>A, XM_047423988.1:c.-707C>A, XM_047423985.1:c.18C>A, XR_007061364.1:n.206C>A, XM_047423987.1:c.-707C>A, XR_007061363.1:n.206C>A, XM_047423986.1:c.-707C>A, XM_047423978.1:c.18C>A, XM_047423979.1:c.18C>A, XM_047423982.1:c.18C>A, XM_047423984.1:c.18C>A, XM_047423983.1:c.18C>A, XM_047423981.1:c.18C>A, NM_001193330.1:c.18C>A, NP_116212.3:p.Asp6Glu, NP_001180260.1:p.Asp6Glu, NP_001180258.1:p.Asp6Glu, NP_001372992.1:p.Asp6Glu, NP_001372991.1:p.Asp6Glu, NP_001373003.1:p.Asp6Glu, NP_001373004.1:p.Asp6Glu, NP_001373000.1:p.Asp6Glu, NP_001373005.1:p.Asp6Glu, NP_001372997.1:p.Asp6Glu, NP_001372995.1:p.Asp6Glu, NP_001372999.1:p.Asp6Glu, NP_001372998.1:p.Asp6Glu, NP_001373001.1:p.Asp6Glu, NP_001372996.1:p.Asp6Glu, XP_011517436.1:p.Asp6Glu, XP_011517424.1:p.Asp6Glu, XP_011517423.1:p.Asp6Glu, XP_011517425.1:p.Asp6Glu, XP_016870721.1:p.Asp6Glu, XP_016870720.1:p.Asp6Glu, XP_011517432.1:p.Asp6Glu, XP_011517429.1:p.Asp6Glu, XP_047279936.1:p.Asp6Glu, XP_047279941.1:p.Asp6Glu, XP_047279934.1:p.Asp6Glu, XP_047279935.1:p.Asp6Glu, XP_047279938.1:p.Asp6Glu, XP_047279940.1:p.Asp6Glu, XP_047279939.1:p.Asp6Glu, XP_047279937.1:p.Asp6Glu

Select item 14805024379.

rs1480502437 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:94759961 (GRCh38)
9:97522243 (GRCh37)
Canonical SPDI:: NC_000009.12:94759960:A:G
Gene:: AOPEP (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.94759961A>G, NC_000009.11:g.97522243A>G, NG_027833.1:g.38293A>G, NM_032823.6:c.178A>G, NM_032823.5:c.178A>G, NM_001193331.3:c.178A>G, NM_001193331.2:c.178A>G, NM_001193329.3:c.178A>G, NM_001193329.2:c.178A>G, NM_001193329.1:c.178A>G, NM_001386063.2:c.178A>G, NM_001386063.1:c.178A>G, NM_001386062.2:c.178A>G, NM_001386062.1:c.178A>G, NR_169863.2:n.366A>G, NR_169863.1:n.366A>G, NM_001386074.1:c.178A>G, NM_001386075.1:c.178A>G, NM_001386071.1:c.178A>G, NM_001386076.1:c.178A>G, NM_001386068.1:c.178A>G, NM_001386066.1:c.178A>G, NR_169865.1:n.366A>G, NR_169862.1:n.366A>G, NM_001386070.1:c.178A>G, NM_001386069.1:c.178A>G, NR_169864.1:n.366A>G, NM_001386072.1:c.178A>G, NR_169866.1:n.366A>G, NM_001386067.1:c.178A>G, XM_011519134.4:c.178A>G, XM_011519134.3:c.178A>G, XM_011519134.2:c.178A>G, XM_011519134.1:c.178A>G, XM_011519122.4:c.178A>G, XM_011519122.3:c.178A>G, XM_011519122.2:c.178A>G, XM_011519122.1:c.178A>G, XM_011519121.4:c.178A>G, XM_011519121.3:c.178A>G, XM_011519121.2:c.178A>G, XM_011519121.1:c.178A>G, XM_011519123.4:c.178A>G, XM_011519123.3:c.178A>G, XM_011519123.2:c.178A>G, XM_011519123.1:c.178A>G, XM_017015232.3:c.178A>G, XM_017015232.2:c.178A>G, XM_017015232.1:c.178A>G, XR_929854.3:n.366A>G, XR_929854.2:n.396A>G, XR_929854.1:n.461A>G, XR_929853.3:n.366A>G, XR_929853.2:n.396A>G, XR_929853.1:n.461A>G, XM_017015231.3:c.178A>G, XM_017015231.2:c.178A>G, XM_017015231.1:c.178A>G, XM_017015237.3:c.-547A>G, XM_017015237.2:c.-547A>G, XM_017015237.1:c.-547A>G, XR_929855.3:n.366A>G, XR_929855.2:n.396A>G, XR_929855.1:n.461A>G, XM_017015234.3:c.-547A>G, XM_017015234.2:c.-547A>G, XM_017015234.1:c.-547A>G, XM_017015236.3:c.-547A>G, XM_017015236.2:c.-547A>G, XM_017015236.1:c.-547A>G, XM_011519130.3:c.178A>G, XM_011519130.2:c.178A>G, XM_011519130.1:c.178A>G, XM_011519127.3:c.178A>G, XM_011519127.2:c.178A>G, XM_011519127.1:c.178A>G, XR_929857.3:n.366A>G, XR_929857.2:n.396A>G, XR_929857.1:n.461A>G, XR_007061365.1:n.366A>G, XM_047423980.1:c.178A>G, XM_047423988.1:c.-547A>G, XM_047423985.1:c.178A>G, XR_007061364.1:n.366A>G, XM_047423987.1:c.-547A>G, XR_007061363.1:n.366A>G, XM_047423986.1:c.-547A>G, XM_047423978.1:c.178A>G, XM_047423979.1:c.178A>G, XM_047423982.1:c.178A>G, XM_047423984.1:c.178A>G, XM_047423983.1:c.178A>G, XM_047423981.1:c.178A>G, NM_001193330.1:c.178A>G, NP_116212.3:p.Ile60Val, NP_001180260.1:p.Ile60Val, NP_001180258.1:p.Ile60Val, NP_001372992.1:p.Ile60Val, NP_001372991.1:p.Ile60Val, NP_001373003.1:p.Ile60Val, NP_001373004.1:p.Ile60Val, NP_001373000.1:p.Ile60Val, NP_001373005.1:p.Ile60Val, NP_001372997.1:p.Ile60Val, NP_001372995.1:p.Ile60Val, NP_001372999.1:p.Ile60Val, NP_001372998.1:p.Ile60Val, NP_001373001.1:p.Ile60Val, NP_001372996.1:p.Ile60Val, XP_011517436.1:p.Ile60Val, XP_011517424.1:p.Ile60Val, XP_011517423.1:p.Ile60Val, XP_011517425.1:p.Ile60Val, XP_016870721.1:p.Ile60Val, XP_016870720.1:p.Ile60Val, XP_011517432.1:p.Ile60Val, XP_011517429.1:p.Ile60Val, XP_047279936.1:p.Ile60Val, XP_047279941.1:p.Ile60Val, XP_047279934.1:p.Ile60Val, XP_047279935.1:p.Ile60Val, XP_047279938.1:p.Ile60Val, XP_047279940.1:p.Ile60Val, XP_047279939.1:p.Ile60Val, XP_047279937.1:p.Ile60Val

Select item 147773154110.

rs1477731541 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 9:95005612 (GRCh38)
9:97767894 (GRCh37)
Canonical SPDI:: NC_000009.12:95005611:AAAA:AAA
Gene:: AOPEP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,terminator_codon_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.95005615del, NC_000009.11:g.97767897del, NG_027833.1:g.283947del, NM_032823.6:c.1817del, NM_032823.5:c.1817del, NM_001193329.3:c.2114del, NM_001193329.2:c.2114del, NM_001193329.1:c.2114del, NM_001386062.2:c.1793del, NM_001386062.1:c.1793del, NR_169863.2:n.1961del, NR_169863.1:n.1961del, NM_001386074.1:c.2114del, NM_001386075.1:c.2114del, NM_001386076.1:c.2114del, NM_001386068.1:c.2114del, NM_001386066.1:c.2114del, NR_169865.1:n.2091del, NR_169862.1:n.2195del, NM_001386070.1:c.2114del, NR_169867.1:n.727del, NM_001386069.1:c.1817del, NR_169864.1:n.1961del, NR_169866.1:n.1794del, NM_001386067.1:c.1592del, NM_001386061.1:c.824del, XM_011519121.4:c.2114del, XM_011519121.3:c.2114del, XM_011519121.2:c.2114del, XM_011519121.1:c.2114del, XM_011519123.4:c.2114del, XM_011519123.3:c.2114del, XM_011519123.2:c.2114del, XM_011519123.1:c.2114del, XM_017015232.3:c.2114del, XM_017015232.2:c.2114del, XM_017015232.1:c.2114del, XR_929854.3:n.2302del, XR_929854.2:n.2332del, XR_929854.1:n.2397del, XR_929853.3:n.2302del, XR_929853.2:n.2332del, XR_929853.1:n.2397del, XM_017015231.3:c.1817del, XM_017015231.2:c.1817del, XM_017015231.1:c.1817del, XM_017015237.3:c.926del, XM_017015237.2:c.926del, XM_017015237.1:c.926del, XR_929855.3:n.2302del, XR_929855.2:n.2332del, XR_929855.1:n.2397del, XM_017015234.3:c.1223del, XM_017015234.2:c.1223del, XM_017015234.1:c.1223del, XM_017015236.3:c.926del, XM_017015236.2:c.926del, XM_017015236.1:c.926del, XM_011519132.2:c.974del, XM_011519132.1:c.974del, XM_047423980.1:c.*3del, XM_047423988.1:c.1223del, XM_047423985.1:c.1817del, XR_007061364.1:n.2302del, XM_047423987.1:c.1223del, XR_007061363.1:n.2465del, XM_047423986.1:c.1223del, XM_047423978.1:c.2114del, XM_047423979.1:c.1817del, XM_047423982.1:c.*3del, XM_047423984.1:c.1817del, XM_047423983.1:c.*3del, XM_047423981.1:c.*3del, NM_001193330.1:c.1817del, NP_116212.3:p.Lys606fs, NP_001180258.1:p.Lys705fs, NP_001372991.1:p.Lys598fs, NP_001373003.1:p.Lys705fs, NP_001373004.1:p.Lys705fs, NP_001373005.1:p.Lys705fs, NP_001372997.1:p.Lys705fs, NP_001372995.1:p.Lys705fs, NP_001372999.1:p.Lys705fs, NP_001372998.1:p.Lys606fs, NP_001372996.1:p.Lys531fs, NP_001372990.1:p.Lys275fs, XP_011517423.1:p.Lys705fs, XP_011517425.1:p.Lys705fs, XP_016870721.1:p.Lys705fs, XP_016870720.1:p.Lys606fs, XP_016870726.1:p.Lys309fs, XP_016870723.1:p.Lys408fs, XP_016870725.1:p.Lys309fs, XP_011517434.1:p.Lys325fs, XP_047279944.1:p.Lys408fs, XP_047279941.1:p.Lys606fs, XP_047279943.1:p.Lys408fs, XP_047279942.1:p.Lys408fs, XP_047279934.1:p.Lys705fs, XP_047279935.1:p.Lys606fs, XP_047279940.1:p.Lys606fs

Select item 147718530911.

rs1477185309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:94760013 (GRCh38)
9:97522295 (GRCh37)
Canonical SPDI:: NC_000009.12:94760012:C:T
Gene:: AOPEP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
HGVS:: NC_000009.12:g.94760013C>T, NC_000009.11:g.97522295C>T, NG_027833.1:g.38345C>T, NM_032823.6:c.230C>T, NM_032823.5:c.230C>T, NM_001193331.3:c.230C>T, NM_001193331.2:c.230C>T, NM_001193329.3:c.230C>T, NM_001193329.2:c.230C>T, NM_001193329.1:c.230C>T, NM_001386063.2:c.230C>T, NM_001386063.1:c.230C>T, NM_001386062.2:c.230C>T, NM_001386062.1:c.230C>T, NR_169863.2:n.418C>T, NR_169863.1:n.418C>T, NM_001386074.1:c.230C>T, NM_001386075.1:c.230C>T, NM_001386071.1:c.230C>T, NM_001386076.1:c.230C>T, NM_001386068.1:c.230C>T, NM_001386066.1:c.230C>T, NR_169865.1:n.418C>T, NR_169862.1:n.418C>T, NM_001386070.1:c.230C>T, NM_001386069.1:c.230C>T, NR_169864.1:n.418C>T, NM_001386072.1:c.230C>T, NR_169866.1:n.418C>T, NM_001386067.1:c.230C>T, XM_011519134.4:c.230C>T, XM_011519134.3:c.230C>T, XM_011519134.2:c.230C>T, XM_011519134.1:c.230C>T, XM_011519122.4:c.230C>T, XM_011519122.3:c.230C>T, XM_011519122.2:c.230C>T, XM_011519122.1:c.230C>T, XM_011519121.4:c.230C>T, XM_011519121.3:c.230C>T, XM_011519121.2:c.230C>T, XM_011519121.1:c.230C>T, XM_011519123.4:c.230C>T, XM_011519123.3:c.230C>T, XM_011519123.2:c.230C>T, XM_011519123.1:c.230C>T, XM_017015232.3:c.230C>T, XM_017015232.2:c.230C>T, XM_017015232.1:c.230C>T, XR_929854.3:n.418C>T, XR_929854.2:n.448C>T, XR_929854.1:n.513C>T, XR_929853.3:n.418C>T, XR_929853.2:n.448C>T, XR_929853.1:n.513C>T, XM_017015231.3:c.230C>T, XM_017015231.2:c.230C>T, XM_017015231.1:c.230C>T, XM_017015237.3:c.-495C>T, XM_017015237.2:c.-495C>T, XM_017015237.1:c.-495C>T, XR_929855.3:n.418C>T, XR_929855.2:n.448C>T, XR_929855.1:n.513C>T, XM_017015234.3:c.-495C>T, XM_017015234.2:c.-495C>T, XM_017015234.1:c.-495C>T, XM_017015236.3:c.-495C>T, XM_017015236.2:c.-495C>T, XM_017015236.1:c.-495C>T, XM_011519130.3:c.230C>T, XM_011519130.2:c.230C>T, XM_011519130.1:c.230C>T, XM_011519127.3:c.230C>T, XM_011519127.2:c.230C>T, XM_011519127.1:c.230C>T, XR_929857.3:n.418C>T, XR_929857.2:n.448C>T, XR_929857.1:n.513C>T, XR_007061365.1:n.418C>T, XM_047423980.1:c.230C>T, XM_047423988.1:c.-495C>T, XM_047423985.1:c.230C>T, XR_007061364.1:n.418C>T, XM_047423987.1:c.-495C>T, XR_007061363.1:n.418C>T, XM_047423986.1:c.-495C>T, XM_047423978.1:c.230C>T, XM_047423979.1:c.230C>T, XM_047423982.1:c.230C>T, XM_047423984.1:c.230C>T, XM_047423983.1:c.230C>T, XM_047423981.1:c.230C>T, NM_001193330.1:c.230C>T, NP_116212.3:p.Pro77Leu, NP_001180260.1:p.Pro77Leu, NP_001180258.1:p.Pro77Leu, NP_001372992.1:p.Pro77Leu, NP_001372991.1:p.Pro77Leu, NP_001373003.1:p.Pro77Leu, NP_001373004.1:p.Pro77Leu, NP_001373000.1:p.Pro77Leu, NP_001373005.1:p.Pro77Leu, NP_001372997.1:p.Pro77Leu, NP_001372995.1:p.Pro77Leu, NP_001372999.1:p.Pro77Leu, NP_001372998.1:p.Pro77Leu, NP_001373001.1:p.Pro77Leu, NP_001372996.1:p.Pro77Leu, XP_011517436.1:p.Pro77Leu, XP_011517424.1:p.Pro77Leu, XP_011517423.1:p.Pro77Leu, XP_011517425.1:p.Pro77Leu, XP_016870721.1:p.Pro77Leu, XP_016870720.1:p.Pro77Leu, XP_011517432.1:p.Pro77Leu, XP_011517429.1:p.Pro77Leu, XP_047279936.1:p.Pro77Leu, XP_047279941.1:p.Pro77Leu, XP_047279934.1:p.Pro77Leu, XP_047279935.1:p.Pro77Leu, XP_047279938.1:p.Pro77Leu, XP_047279940.1:p.Pro77Leu, XP_047279939.1:p.Pro77Leu, XP_047279937.1:p.Pro77Leu

Select item 147527456912.

rs1475274569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:95005172 (GRCh38)
9:97767454 (GRCh37)
Canonical SPDI:: NC_000009.12:95005171:G:T
Gene:: AOPEP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000009.12:g.95005172G>T, NC_000009.11:g.97767454G>T, NG_027833.1:g.283504G>T, NM_032823.6:c.1695G>T, NM_032823.5:c.1695G>T, NM_001193329.3:c.1992G>T, NM_001193329.2:c.1992G>T, NM_001193329.1:c.1992G>T, NM_001386062.2:c.1671G>T, NM_001386062.1:c.1671G>T, NR_169863.2:n.1839G>T, NR_169863.1:n.1839G>T, NM_001386074.1:c.1992G>T, NM_001386075.1:c.1992G>T, NM_001386076.1:c.1992G>T, NM_001386068.1:c.1992G>T, NM_001386066.1:c.1992G>T, NR_169865.1:n.1969G>T, NR_169862.1:n.2073G>T, NM_001386070.1:c.1992G>T, NR_169867.1:n.605G>T, NM_001386069.1:c.1695G>T, NR_169864.1:n.1839G>T, NR_169866.1:n.1672G>T, NM_001386067.1:c.1470G>T, NM_001386061.1:c.702G>T, XM_011519121.4:c.1992G>T, XM_011519121.3:c.1992G>T, XM_011519121.2:c.1992G>T, XM_011519121.1:c.1992G>T, XM_011519123.4:c.1992G>T, XM_011519123.3:c.1992G>T, XM_011519123.2:c.1992G>T, XM_011519123.1:c.1992G>T, XM_017015232.3:c.1992G>T, XM_017015232.2:c.1992G>T, XM_017015232.1:c.1992G>T, XR_929854.3:n.2180G>T, XR_929854.2:n.2210G>T, XR_929854.1:n.2275G>T, XR_929853.3:n.2180G>T, XR_929853.2:n.2210G>T, XR_929853.1:n.2275G>T, XM_017015231.3:c.1695G>T, XM_017015231.2:c.1695G>T, XM_017015231.1:c.1695G>T, XM_017015237.3:c.804G>T, XM_017015237.2:c.804G>T, XM_017015237.1:c.804G>T, XR_929855.3:n.2180G>T, XR_929855.2:n.2210G>T, XR_929855.1:n.2275G>T, XM_017015234.3:c.1101G>T, XM_017015234.2:c.1101G>T, XM_017015234.1:c.1101G>T, XM_017015236.3:c.804G>T, XM_017015236.2:c.804G>T, XM_017015236.1:c.804G>T, XM_011519132.2:c.852G>T, XM_011519132.1:c.852G>T, XM_047423980.1:c.1992G>T, XM_047423988.1:c.1101G>T, XM_047423985.1:c.1695G>T, XR_007061364.1:n.2180G>T, XM_047423987.1:c.1101G>T, XR_007061363.1:n.2180G>T, XM_047423986.1:c.1101G>T, XM_047423978.1:c.1992G>T, XM_047423979.1:c.1695G>T, XM_047423982.1:c.1992G>T, XM_047423984.1:c.1695G>T, XM_047423983.1:c.1992G>T, XM_047423981.1:c.1992G>T, NM_001193330.1:c.1695G>T, NP_116212.3:p.Glu565Asp, NP_001180258.1:p.Glu664Asp, NP_001372991.1:p.Glu557Asp, NP_001373003.1:p.Glu664Asp, NP_001373004.1:p.Glu664Asp, NP_001373005.1:p.Glu664Asp, NP_001372997.1:p.Glu664Asp, NP_001372995.1:p.Glu664Asp, NP_001372999.1:p.Glu664Asp, NP_001372998.1:p.Glu565Asp, NP_001372996.1:p.Glu490Asp, NP_001372990.1:p.Glu234Asp, XP_011517423.1:p.Glu664Asp, XP_011517425.1:p.Glu664Asp, XP_016870721.1:p.Glu664Asp, XP_016870720.1:p.Glu565Asp, XP_016870726.1:p.Glu268Asp, XP_016870723.1:p.Glu367Asp, XP_016870725.1:p.Glu268Asp, XP_011517434.1:p.Glu284Asp, XP_047279936.1:p.Glu664Asp, XP_047279944.1:p.Glu367Asp, XP_047279941.1:p.Glu565Asp, XP_047279943.1:p.Glu367Asp, XP_047279942.1:p.Glu367Asp, XP_047279934.1:p.Glu664Asp, XP_047279935.1:p.Glu565Asp, XP_047279938.1:p.Glu664Asp, XP_047279940.1:p.Glu565Asp, XP_047279939.1:p.Glu664Asp, XP_047279937.1:p.Glu664Asp

Select item 147235225413.

rs1472352254 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:94759917 (GRCh38)
9:97522199 (GRCh37)
Canonical SPDI:: NC_000009.12:94759916:T:A
Gene:: AOPEP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.94759917T>A, NC_000009.11:g.97522199T>A, NG_027833.1:g.38249T>A, NM_032823.6:c.134T>A, NM_032823.5:c.134T>A, NM_001193331.3:c.134T>A, NM_001193331.2:c.134T>A, NM_001193329.3:c.134T>A, NM_001193329.2:c.134T>A, NM_001193329.1:c.134T>A, NM_001386063.2:c.134T>A, NM_001386063.1:c.134T>A, NM_001386062.2:c.134T>A, NM_001386062.1:c.134T>A, NR_169863.2:n.322T>A, NR_169863.1:n.322T>A, NM_001386074.1:c.134T>A, NM_001386075.1:c.134T>A, NM_001386071.1:c.134T>A, NM_001386076.1:c.134T>A, NM_001386068.1:c.134T>A, NM_001386066.1:c.134T>A, NR_169865.1:n.322T>A, NR_169862.1:n.322T>A, NM_001386070.1:c.134T>A, NM_001386069.1:c.134T>A, NR_169864.1:n.322T>A, NM_001386072.1:c.134T>A, NR_169866.1:n.322T>A, NM_001386067.1:c.134T>A, XM_011519134.4:c.134T>A, XM_011519134.3:c.134T>A, XM_011519134.2:c.134T>A, XM_011519134.1:c.134T>A, XM_011519122.4:c.134T>A, XM_011519122.3:c.134T>A, XM_011519122.2:c.134T>A, XM_011519122.1:c.134T>A, XM_011519121.4:c.134T>A, XM_011519121.3:c.134T>A, XM_011519121.2:c.134T>A, XM_011519121.1:c.134T>A, XM_011519123.4:c.134T>A, XM_011519123.3:c.134T>A, XM_011519123.2:c.134T>A, XM_011519123.1:c.134T>A, XM_017015232.3:c.134T>A, XM_017015232.2:c.134T>A, XM_017015232.1:c.134T>A, XR_929854.3:n.322T>A, XR_929854.2:n.352T>A, XR_929854.1:n.417T>A, XR_929853.3:n.322T>A, XR_929853.2:n.352T>A, XR_929853.1:n.417T>A, XM_017015231.3:c.134T>A, XM_017015231.2:c.134T>A, XM_017015231.1:c.134T>A, XM_017015237.3:c.-591T>A, XM_017015237.2:c.-591T>A, XM_017015237.1:c.-591T>A, XR_929855.3:n.322T>A, XR_929855.2:n.352T>A, XR_929855.1:n.417T>A, XM_017015234.3:c.-591T>A, XM_017015234.2:c.-591T>A, XM_017015234.1:c.-591T>A, XM_017015236.3:c.-591T>A, XM_017015236.2:c.-591T>A, XM_017015236.1:c.-591T>A, XM_011519130.3:c.134T>A, XM_011519130.2:c.134T>A, XM_011519130.1:c.134T>A, XM_011519127.3:c.134T>A, XM_011519127.2:c.134T>A, XM_011519127.1:c.134T>A, XR_929857.3:n.322T>A, XR_929857.2:n.352T>A, XR_929857.1:n.417T>A, XR_007061365.1:n.322T>A, XM_047423980.1:c.134T>A, XM_047423988.1:c.-591T>A, XM_047423985.1:c.134T>A, XR_007061364.1:n.322T>A, XM_047423987.1:c.-591T>A, XR_007061363.1:n.322T>A, XM_047423986.1:c.-591T>A, XM_047423978.1:c.134T>A, XM_047423979.1:c.134T>A, XM_047423982.1:c.134T>A, XM_047423984.1:c.134T>A, XM_047423983.1:c.134T>A, XM_047423981.1:c.134T>A, NM_001193330.1:c.134T>A, NP_116212.3:p.Leu45His, NP_001180260.1:p.Leu45His, NP_001180258.1:p.Leu45His, NP_001372992.1:p.Leu45His, NP_001372991.1:p.Leu45His, NP_001373003.1:p.Leu45His, NP_001373004.1:p.Leu45His, NP_001373000.1:p.Leu45His, NP_001373005.1:p.Leu45His, NP_001372997.1:p.Leu45His, NP_001372995.1:p.Leu45His, NP_001372999.1:p.Leu45His, NP_001372998.1:p.Leu45His, NP_001373001.1:p.Leu45His, NP_001372996.1:p.Leu45His, XP_011517436.1:p.Leu45His, XP_011517424.1:p.Leu45His, XP_011517423.1:p.Leu45His, XP_011517425.1:p.Leu45His, XP_016870721.1:p.Leu45His, XP_016870720.1:p.Leu45His, XP_011517432.1:p.Leu45His, XP_011517429.1:p.Leu45His, XP_047279936.1:p.Leu45His, XP_047279941.1:p.Leu45His, XP_047279934.1:p.Leu45His, XP_047279935.1:p.Leu45His, XP_047279938.1:p.Leu45His, XP_047279940.1:p.Leu45His, XP_047279939.1:p.Leu45His, XP_047279937.1:p.Leu45His

Select item 147142006614.

rs1471420066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:94924068 (GRCh38)
9:97686350 (GRCh37)
Canonical SPDI:: NC_000009.12:94924067:C:T
Gene:: AOPEP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.94924068C>T, NC_000009.11:g.97686350C>T, NG_027833.1:g.202400C>T, NM_001193331.3:c.1447C>T, NM_001193331.2:c.1447C>T, NM_001193329.3:c.1447C>T, NM_001193329.2:c.1447C>T, NM_001193329.1:c.1447C>T, NM_001386063.2:c.1447C>T, NM_001386063.1:c.1447C>T, NM_001386062.2:c.1126C>T, NM_001386062.1:c.1126C>T, NM_001386074.1:c.1447C>T, NM_001386075.1:c.1447C>T, NM_001386071.1:c.1447C>T, NM_001386076.1:c.1447C>T, NM_001386068.1:c.1447C>T, NM_001386066.1:c.1447C>T, NR_169865.1:n.1468C>T, NR_169862.1:n.1635C>T, NM_001386070.1:c.1447C>T, NR_169867.1:n.211C>T, NM_001386072.1:c.1447C>T, NM_001386073.1:c.577C>T, XM_011519122.4:c.1447C>T, XM_011519122.3:c.1447C>T, XM_011519122.2:c.1447C>T, XM_011519122.1:c.1447C>T, XM_011519121.4:c.1447C>T, XM_011519121.3:c.1447C>T, XM_011519121.2:c.1447C>T, XM_011519121.1:c.1447C>T, XM_011519123.4:c.1447C>T, XM_011519123.3:c.1447C>T, XM_011519123.2:c.1447C>T, XM_011519123.1:c.1447C>T, XM_017015232.3:c.1447C>T, XM_017015232.2:c.1447C>T, XM_017015232.1:c.1447C>T, XR_929854.3:n.1635C>T, XR_929854.2:n.1665C>T, XR_929854.1:n.1730C>T, XR_929853.3:n.1635C>T, XR_929853.2:n.1665C>T, XR_929853.1:n.1730C>T, XR_929855.3:n.1635C>T, XR_929855.2:n.1665C>T, XR_929855.1:n.1730C>T, XM_017015234.3:c.556C>T, XM_017015234.2:c.556C>T, XM_017015234.1:c.556C>T, XM_011519127.3:c.1447C>T, XM_011519127.2:c.1447C>T, XM_011519127.1:c.1447C>T, XR_929857.3:n.1635C>T, XR_929857.2:n.1665C>T, XR_929857.1:n.1730C>T, XM_011519132.2:c.307C>T, XM_011519132.1:c.307C>T, XR_007061365.1:n.1635C>T, XM_047423980.1:c.1447C>T, XM_047423988.1:c.556C>T, XR_007061364.1:n.1635C>T, XM_047423987.1:c.556C>T, XR_007061363.1:n.1635C>T, XM_047423986.1:c.556C>T, XM_047423978.1:c.1447C>T, XM_047423982.1:c.1447C>T, XM_047423983.1:c.1447C>T, XM_047423981.1:c.1447C>T, NP_001180260.1:p.His483Tyr, NP_001180258.1:p.His483Tyr, NP_001372992.1:p.His483Tyr, NP_001372991.1:p.His376Tyr, NP_001373003.1:p.His483Tyr, NP_001373004.1:p.His483Tyr, NP_001373000.1:p.His483Tyr, NP_001373005.1:p.His483Tyr, NP_001372997.1:p.His483Tyr, NP_001372995.1:p.His483Tyr, NP_001372999.1:p.His483Tyr, NP_001373001.1:p.His483Tyr, NP_001373002.1:p.His193Tyr, XP_011517424.1:p.His483Tyr, XP_011517423.1:p.His483Tyr, XP_011517425.1:p.His483Tyr, XP_016870721.1:p.His483Tyr, XP_016870723.1:p.His186Tyr, XP_011517429.1:p.His483Tyr, XP_011517434.1:p.His103Tyr, XP_047279936.1:p.His483Tyr, XP_047279944.1:p.His186Tyr, XP_047279943.1:p.His186Tyr, XP_047279942.1:p.His186Tyr, XP_047279934.1:p.His483Tyr, XP_047279938.1:p.His483Tyr, XP_047279939.1:p.His483Tyr, XP_047279937.1:p.His483Tyr

Select item 147076230815.

rs1470762308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:94759902 (GRCh38)
9:97522184 (GRCh37)
Canonical SPDI:: NC_000009.12:94759901:A:G
Gene:: AOPEP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.94759902A>G, NC_000009.11:g.97522184A>G, NG_027833.1:g.38234A>G, NM_032823.6:c.119A>G, NM_032823.5:c.119A>G, NM_001193331.3:c.119A>G, NM_001193331.2:c.119A>G, NM_001193329.3:c.119A>G, NM_001193329.2:c.119A>G, NM_001193329.1:c.119A>G, NM_001386063.2:c.119A>G, NM_001386063.1:c.119A>G, NM_001386062.2:c.119A>G, NM_001386062.1:c.119A>G, NR_169863.2:n.307A>G, NR_169863.1:n.307A>G, NM_001386074.1:c.119A>G, NM_001386075.1:c.119A>G, NM_001386071.1:c.119A>G, NM_001386076.1:c.119A>G, NM_001386068.1:c.119A>G, NM_001386066.1:c.119A>G, NR_169865.1:n.307A>G, NR_169862.1:n.307A>G, NM_001386070.1:c.119A>G, NM_001386069.1:c.119A>G, NR_169864.1:n.307A>G, NM_001386072.1:c.119A>G, NR_169866.1:n.307A>G, NM_001386067.1:c.119A>G, XM_011519134.4:c.119A>G, XM_011519134.3:c.119A>G, XM_011519134.2:c.119A>G, XM_011519134.1:c.119A>G, XM_011519122.4:c.119A>G, XM_011519122.3:c.119A>G, XM_011519122.2:c.119A>G, XM_011519122.1:c.119A>G, XM_011519121.4:c.119A>G, XM_011519121.3:c.119A>G, XM_011519121.2:c.119A>G, XM_011519121.1:c.119A>G, XM_011519123.4:c.119A>G, XM_011519123.3:c.119A>G, XM_011519123.2:c.119A>G, XM_011519123.1:c.119A>G, XM_017015232.3:c.119A>G, XM_017015232.2:c.119A>G, XM_017015232.1:c.119A>G, XR_929854.3:n.307A>G, XR_929854.2:n.337A>G, XR_929854.1:n.402A>G, XR_929853.3:n.307A>G, XR_929853.2:n.337A>G, XR_929853.1:n.402A>G, XM_017015231.3:c.119A>G, XM_017015231.2:c.119A>G, XM_017015231.1:c.119A>G, XM_017015237.3:c.-606A>G, XM_017015237.2:c.-606A>G, XM_017015237.1:c.-606A>G, XR_929855.3:n.307A>G, XR_929855.2:n.337A>G, XR_929855.1:n.402A>G, XM_017015234.3:c.-606A>G, XM_017015234.2:c.-606A>G, XM_017015234.1:c.-606A>G, XM_017015236.3:c.-606A>G, XM_017015236.2:c.-606A>G, XM_017015236.1:c.-606A>G, XM_011519130.3:c.119A>G, XM_011519130.2:c.119A>G, XM_011519130.1:c.119A>G, XM_011519127.3:c.119A>G, XM_011519127.2:c.119A>G, XM_011519127.1:c.119A>G, XR_929857.3:n.307A>G, XR_929857.2:n.337A>G, XR_929857.1:n.402A>G, XR_007061365.1:n.307A>G, XM_047423980.1:c.119A>G, XM_047423988.1:c.-606A>G, XM_047423985.1:c.119A>G, XR_007061364.1:n.307A>G, XM_047423987.1:c.-606A>G, XR_007061363.1:n.307A>G, XM_047423986.1:c.-606A>G, XM_047423978.1:c.119A>G, XM_047423979.1:c.119A>G, XM_047423982.1:c.119A>G, XM_047423984.1:c.119A>G, XM_047423983.1:c.119A>G, XM_047423981.1:c.119A>G, NM_001193330.1:c.119A>G, NP_116212.3:p.Glu40Gly, NP_001180260.1:p.Glu40Gly, NP_001180258.1:p.Glu40Gly, NP_001372992.1:p.Glu40Gly, NP_001372991.1:p.Glu40Gly, NP_001373003.1:p.Glu40Gly, NP_001373004.1:p.Glu40Gly, NP_001373000.1:p.Glu40Gly, NP_001373005.1:p.Glu40Gly, NP_001372997.1:p.Glu40Gly, NP_001372995.1:p.Glu40Gly, NP_001372999.1:p.Glu40Gly, NP_001372998.1:p.Glu40Gly, NP_001373001.1:p.Glu40Gly, NP_001372996.1:p.Glu40Gly, XP_011517436.1:p.Glu40Gly, XP_011517424.1:p.Glu40Gly, XP_011517423.1:p.Glu40Gly, XP_011517425.1:p.Glu40Gly, XP_016870721.1:p.Glu40Gly, XP_016870720.1:p.Glu40Gly, XP_011517432.1:p.Glu40Gly, XP_011517429.1:p.Glu40Gly, XP_047279936.1:p.Glu40Gly, XP_047279941.1:p.Glu40Gly, XP_047279934.1:p.Glu40Gly, XP_047279935.1:p.Glu40Gly, XP_047279938.1:p.Glu40Gly, XP_047279940.1:p.Glu40Gly, XP_047279939.1:p.Glu40Gly, XP_047279937.1:p.Glu40Gly

Select item 146645329016.

rs1466453290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:94760185 (GRCh38)
9:97522467 (GRCh37)
Canonical SPDI:: NC_000009.12:94760184:A:G
Gene:: AOPEP (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.94760185A>G, NC_000009.11:g.97522467A>G, NG_027833.1:g.38517A>G, NM_032823.6:c.402A>G, NM_032823.5:c.402A>G, NM_001193331.3:c.402A>G, NM_001193331.2:c.402A>G, NM_001193329.3:c.402A>G, NM_001193329.2:c.402A>G, NM_001193329.1:c.402A>G, NM_001386063.2:c.402A>G, NM_001386063.1:c.402A>G, NM_001386062.2:c.402A>G, NM_001386062.1:c.402A>G, NR_169863.2:n.590A>G, NR_169863.1:n.590A>G, NM_001386074.1:c.402A>G, NM_001386075.1:c.402A>G, NM_001386071.1:c.402A>G, NM_001386076.1:c.402A>G, NM_001386068.1:c.402A>G, NM_001386066.1:c.402A>G, NR_169865.1:n.590A>G, NR_169862.1:n.590A>G, NM_001386070.1:c.402A>G, NM_001386069.1:c.402A>G, NR_169864.1:n.590A>G, NM_001386072.1:c.402A>G, NR_169866.1:n.590A>G, NM_001386067.1:c.402A>G, XM_011519134.4:c.402A>G, XM_011519134.3:c.402A>G, XM_011519134.2:c.402A>G, XM_011519134.1:c.402A>G, XM_011519122.4:c.402A>G, XM_011519122.3:c.402A>G, XM_011519122.2:c.402A>G, XM_011519122.1:c.402A>G, XM_011519121.4:c.402A>G, XM_011519121.3:c.402A>G, XM_011519121.2:c.402A>G, XM_011519121.1:c.402A>G, XM_011519123.4:c.402A>G, XM_011519123.3:c.402A>G, XM_011519123.2:c.402A>G, XM_011519123.1:c.402A>G, XM_017015232.3:c.402A>G, XM_017015232.2:c.402A>G, XM_017015232.1:c.402A>G, XR_929854.3:n.590A>G, XR_929854.2:n.620A>G, XR_929854.1:n.685A>G, XR_929853.3:n.590A>G, XR_929853.2:n.620A>G, XR_929853.1:n.685A>G, XM_017015231.3:c.402A>G, XM_017015231.2:c.402A>G, XM_017015231.1:c.402A>G, XM_017015237.3:c.-323A>G, XM_017015237.2:c.-323A>G, XM_017015237.1:c.-323A>G, XR_929855.3:n.590A>G, XR_929855.2:n.620A>G, XR_929855.1:n.685A>G, XM_017015234.3:c.-323A>G, XM_017015234.2:c.-323A>G, XM_017015234.1:c.-323A>G, XM_017015236.3:c.-323A>G, XM_017015236.2:c.-323A>G, XM_017015236.1:c.-323A>G, XM_011519130.3:c.402A>G, XM_011519130.2:c.402A>G, XM_011519130.1:c.402A>G, XM_011519127.3:c.402A>G, XM_011519127.2:c.402A>G, XM_011519127.1:c.402A>G, XR_929857.3:n.590A>G, XR_929857.2:n.620A>G, XR_929857.1:n.685A>G, XR_007061365.1:n.590A>G, XM_047423980.1:c.402A>G, XM_047423988.1:c.-323A>G, XM_047423985.1:c.402A>G, XR_007061364.1:n.590A>G, XM_047423987.1:c.-323A>G, XR_007061363.1:n.590A>G, XM_047423986.1:c.-323A>G, XM_047423978.1:c.402A>G, XM_047423979.1:c.402A>G, XM_047423982.1:c.402A>G, XM_047423984.1:c.402A>G, XM_047423983.1:c.402A>G, XM_047423981.1:c.402A>G, NM_001193330.1:c.402A>G

Select item 146592325717.

rs1465923257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:94760424 (GRCh38)
9:97522706 (GRCh37)
Canonical SPDI:: NC_000009.12:94760423:G:C
Gene:: AOPEP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.94760424G>C, NC_000009.11:g.97522706G>C, NG_027833.1:g.38756G>C, NM_032823.6:c.641G>C, NM_032823.5:c.641G>C, NM_001193331.3:c.641G>C, NM_001193331.2:c.641G>C, NM_001193329.3:c.641G>C, NM_001193329.2:c.641G>C, NM_001193329.1:c.641G>C, NM_001386063.2:c.641G>C, NM_001386063.1:c.641G>C, NM_001386062.2:c.641G>C, NM_001386062.1:c.641G>C, NR_169863.2:n.829G>C, NR_169863.1:n.829G>C, NM_001386074.1:c.641G>C, NM_001386075.1:c.641G>C, NM_001386071.1:c.641G>C, NM_001386076.1:c.641G>C, NM_001386068.1:c.641G>C, NM_001386066.1:c.641G>C, NR_169865.1:n.829G>C, NR_169862.1:n.829G>C, NM_001386070.1:c.641G>C, NM_001386069.1:c.641G>C, NR_169864.1:n.829G>C, NM_001386072.1:c.641G>C, NR_169866.1:n.829G>C, NM_001386067.1:c.641G>C, XM_011519134.4:c.641G>C, XM_011519134.3:c.641G>C, XM_011519134.2:c.641G>C, XM_011519134.1:c.641G>C, XM_011519122.4:c.641G>C, XM_011519122.3:c.641G>C, XM_011519122.2:c.641G>C, XM_011519122.1:c.641G>C, XM_011519121.4:c.641G>C, XM_011519121.3:c.641G>C, XM_011519121.2:c.641G>C, XM_011519121.1:c.641G>C, XM_011519123.4:c.641G>C, XM_011519123.3:c.641G>C, XM_011519123.2:c.641G>C, XM_011519123.1:c.641G>C, XM_017015232.3:c.641G>C, XM_017015232.2:c.641G>C, XM_017015232.1:c.641G>C, XR_929854.3:n.829G>C, XR_929854.2:n.859G>C, XR_929854.1:n.924G>C, XR_929853.3:n.829G>C, XR_929853.2:n.859G>C, XR_929853.1:n.924G>C, XM_017015231.3:c.641G>C, XM_017015231.2:c.641G>C, XM_017015231.1:c.641G>C, XM_017015237.3:c.-84G>C, XM_017015237.2:c.-84G>C, XM_017015237.1:c.-84G>C, XR_929855.3:n.829G>C, XR_929855.2:n.859G>C, XR_929855.1:n.924G>C, XM_017015234.3:c.-84G>C, XM_017015234.2:c.-84G>C, XM_017015234.1:c.-84G>C, XM_017015236.3:c.-84G>C, XM_017015236.2:c.-84G>C, XM_017015236.1:c.-84G>C, XM_011519130.3:c.641G>C, XM_011519130.2:c.641G>C, XM_011519130.1:c.641G>C, XM_011519127.3:c.641G>C, XM_011519127.2:c.641G>C, XM_011519127.1:c.641G>C, XR_929857.3:n.829G>C, XR_929857.2:n.859G>C, XR_929857.1:n.924G>C, XR_007061365.1:n.829G>C, XM_047423980.1:c.641G>C, XM_047423988.1:c.-84G>C, XM_047423985.1:c.641G>C, XR_007061364.1:n.829G>C, XM_047423987.1:c.-84G>C, XR_007061363.1:n.829G>C, XM_047423986.1:c.-84G>C, XM_047423978.1:c.641G>C, XM_047423979.1:c.641G>C, XM_047423982.1:c.641G>C, XM_047423984.1:c.641G>C, XM_047423983.1:c.641G>C, XM_047423981.1:c.641G>C, NM_001193330.1:c.641G>C, NP_116212.3:p.Gly214Ala, NP_001180260.1:p.Gly214Ala, NP_001180258.1:p.Gly214Ala, NP_001372992.1:p.Gly214Ala, NP_001372991.1:p.Gly214Ala, NP_001373003.1:p.Gly214Ala, NP_001373004.1:p.Gly214Ala, NP_001373000.1:p.Gly214Ala, NP_001373005.1:p.Gly214Ala, NP_001372997.1:p.Gly214Ala, NP_001372995.1:p.Gly214Ala, NP_001372999.1:p.Gly214Ala, NP_001372998.1:p.Gly214Ala, NP_001373001.1:p.Gly214Ala, NP_001372996.1:p.Gly214Ala, XP_011517436.1:p.Gly214Ala, XP_011517424.1:p.Gly214Ala, XP_011517423.1:p.Gly214Ala, XP_011517425.1:p.Gly214Ala, XP_016870721.1:p.Gly214Ala, XP_016870720.1:p.Gly214Ala, XP_011517432.1:p.Gly214Ala, XP_011517429.1:p.Gly214Ala, XP_047279936.1:p.Gly214Ala, XP_047279941.1:p.Gly214Ala, XP_047279934.1:p.Gly214Ala, XP_047279935.1:p.Gly214Ala, XP_047279938.1:p.Gly214Ala, XP_047279940.1:p.Gly214Ala, XP_047279939.1:p.Gly214Ala, XP_047279937.1:p.Gly214Ala

Select item 146368060318.

rs1463680603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:94760397 (GRCh38)
9:97522679 (GRCh37)
Canonical SPDI:: NC_000009.12:94760396:A:G
Gene:: AOPEP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.94760397A>G, NC_000009.11:g.97522679A>G, NG_027833.1:g.38729A>G, NM_032823.6:c.614A>G, NM_032823.5:c.614A>G, NM_001193331.3:c.614A>G, NM_001193331.2:c.614A>G, NM_001193329.3:c.614A>G, NM_001193329.2:c.614A>G, NM_001193329.1:c.614A>G, NM_001386063.2:c.614A>G, NM_001386063.1:c.614A>G, NM_001386062.2:c.614A>G, NM_001386062.1:c.614A>G, NR_169863.2:n.802A>G, NR_169863.1:n.802A>G, NM_001386074.1:c.614A>G, NM_001386075.1:c.614A>G, NM_001386071.1:c.614A>G, NM_001386076.1:c.614A>G, NM_001386068.1:c.614A>G, NM_001386066.1:c.614A>G, NR_169865.1:n.802A>G, NR_169862.1:n.802A>G, NM_001386070.1:c.614A>G, NM_001386069.1:c.614A>G, NR_169864.1:n.802A>G, NM_001386072.1:c.614A>G, NR_169866.1:n.802A>G, NM_001386067.1:c.614A>G, XM_011519134.4:c.614A>G, XM_011519134.3:c.614A>G, XM_011519134.2:c.614A>G, XM_011519134.1:c.614A>G, XM_011519122.4:c.614A>G, XM_011519122.3:c.614A>G, XM_011519122.2:c.614A>G, XM_011519122.1:c.614A>G, XM_011519121.4:c.614A>G, XM_011519121.3:c.614A>G, XM_011519121.2:c.614A>G, XM_011519121.1:c.614A>G, XM_011519123.4:c.614A>G, XM_011519123.3:c.614A>G, XM_011519123.2:c.614A>G, XM_011519123.1:c.614A>G, XM_017015232.3:c.614A>G, XM_017015232.2:c.614A>G, XM_017015232.1:c.614A>G, XR_929854.3:n.802A>G, XR_929854.2:n.832A>G, XR_929854.1:n.897A>G, XR_929853.3:n.802A>G, XR_929853.2:n.832A>G, XR_929853.1:n.897A>G, XM_017015231.3:c.614A>G, XM_017015231.2:c.614A>G, XM_017015231.1:c.614A>G, XM_017015237.3:c.-111A>G, XM_017015237.2:c.-111A>G, XM_017015237.1:c.-111A>G, XR_929855.3:n.802A>G, XR_929855.2:n.832A>G, XR_929855.1:n.897A>G, XM_017015234.3:c.-111A>G, XM_017015234.2:c.-111A>G, XM_017015234.1:c.-111A>G, XM_017015236.3:c.-111A>G, XM_017015236.2:c.-111A>G, XM_017015236.1:c.-111A>G, XM_011519130.3:c.614A>G, XM_011519130.2:c.614A>G, XM_011519130.1:c.614A>G, XM_011519127.3:c.614A>G, XM_011519127.2:c.614A>G, XM_011519127.1:c.614A>G, XR_929857.3:n.802A>G, XR_929857.2:n.832A>G, XR_929857.1:n.897A>G, XR_007061365.1:n.802A>G, XM_047423980.1:c.614A>G, XM_047423988.1:c.-111A>G, XM_047423985.1:c.614A>G, XR_007061364.1:n.802A>G, XM_047423987.1:c.-111A>G, XR_007061363.1:n.802A>G, XM_047423986.1:c.-111A>G, XM_047423978.1:c.614A>G, XM_047423979.1:c.614A>G, XM_047423982.1:c.614A>G, XM_047423984.1:c.614A>G, XM_047423983.1:c.614A>G, XM_047423981.1:c.614A>G, NM_001193330.1:c.614A>G, NP_116212.3:p.Tyr205Cys, NP_001180260.1:p.Tyr205Cys, NP_001180258.1:p.Tyr205Cys, NP_001372992.1:p.Tyr205Cys, NP_001372991.1:p.Tyr205Cys, NP_001373003.1:p.Tyr205Cys, NP_001373004.1:p.Tyr205Cys, NP_001373000.1:p.Tyr205Cys, NP_001373005.1:p.Tyr205Cys, NP_001372997.1:p.Tyr205Cys, NP_001372995.1:p.Tyr205Cys, NP_001372999.1:p.Tyr205Cys, NP_001372998.1:p.Tyr205Cys, NP_001373001.1:p.Tyr205Cys, NP_001372996.1:p.Tyr205Cys, XP_011517436.1:p.Tyr205Cys, XP_011517424.1:p.Tyr205Cys, XP_011517423.1:p.Tyr205Cys, XP_011517425.1:p.Tyr205Cys, XP_016870721.1:p.Tyr205Cys, XP_016870720.1:p.Tyr205Cys, XP_011517432.1:p.Tyr205Cys, XP_011517429.1:p.Tyr205Cys, XP_047279936.1:p.Tyr205Cys, XP_047279941.1:p.Tyr205Cys, XP_047279934.1:p.Tyr205Cys, XP_047279935.1:p.Tyr205Cys, XP_047279938.1:p.Tyr205Cys, XP_047279940.1:p.Tyr205Cys, XP_047279939.1:p.Tyr205Cys, XP_047279937.1:p.Tyr205Cys

Select item 146340251719.

rs1463402517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:94773095 (GRCh38)
9:97535377 (GRCh37)
Canonical SPDI:: NC_000009.12:94773094:A:G
Gene:: AOPEP (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.94773095A>G, NC_000009.11:g.97535377A>G, NG_027833.1:g.51427A>G, NM_032823.6:c.891A>G, NM_032823.5:c.891A>G, NM_001193331.3:c.891A>G, NM_001193331.2:c.891A>G, NM_001193329.3:c.891A>G, NM_001193329.2:c.891A>G, NM_001193329.1:c.891A>G, NM_001386063.2:c.891A>G, NM_001386063.1:c.891A>G, NR_169863.2:n.1079A>G, NR_169863.1:n.1079A>G, NM_001386074.1:c.891A>G, NM_001386075.1:c.891A>G, NM_001386071.1:c.891A>G, NM_001386076.1:c.891A>G, NM_001386068.1:c.891A>G, NM_001386066.1:c.891A>G, NR_169862.1:n.1079A>G, NM_001386070.1:c.891A>G, NM_001386069.1:c.891A>G, NR_169864.1:n.1079A>G, NM_001386072.1:c.891A>G, NM_001386067.1:c.891A>G, NM_001386073.1:c.21A>G, XM_011519134.4:c.891A>G, XM_011519134.3:c.891A>G, XM_011519134.2:c.891A>G, XM_011519134.1:c.891A>G, XM_011519122.4:c.891A>G, XM_011519122.3:c.891A>G, XM_011519122.2:c.891A>G, XM_011519122.1:c.891A>G, XM_011519121.4:c.891A>G, XM_011519121.3:c.891A>G, XM_011519121.2:c.891A>G, XM_011519121.1:c.891A>G, XM_011519123.4:c.891A>G, XM_011519123.3:c.891A>G, XM_011519123.2:c.891A>G, XM_011519123.1:c.891A>G, XM_017015232.3:c.891A>G, XM_017015232.2:c.891A>G, XM_017015232.1:c.891A>G, XR_929854.3:n.1079A>G, XR_929854.2:n.1109A>G, XR_929854.1:n.1174A>G, XR_929853.3:n.1079A>G, XR_929853.2:n.1109A>G, XR_929853.1:n.1174A>G, XM_017015231.3:c.891A>G, XM_017015231.2:c.891A>G, XM_017015231.1:c.891A>G, XR_929855.3:n.1079A>G, XR_929855.2:n.1109A>G, XR_929855.1:n.1174A>G, XM_011519130.3:c.891A>G, XM_011519130.2:c.891A>G, XM_011519130.1:c.891A>G, XM_011519127.3:c.891A>G, XM_011519127.2:c.891A>G, XM_011519127.1:c.891A>G, XR_929857.3:n.1079A>G, XR_929857.2:n.1109A>G, XR_929857.1:n.1174A>G, XR_007061365.1:n.1079A>G, XM_047423980.1:c.891A>G, XM_047423985.1:c.891A>G, XR_007061364.1:n.1079A>G, XR_007061363.1:n.1079A>G, XM_047423978.1:c.891A>G, XM_047423979.1:c.891A>G, XM_047423982.1:c.891A>G, XM_047423984.1:c.891A>G, XM_047423983.1:c.891A>G, XM_047423981.1:c.891A>G, NM_001193330.1:c.891A>G

Select item 146303172520.

rs1463031725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:94773066 (GRCh38)
9:97535348 (GRCh37)
Canonical SPDI:: NC_000009.12:94773065:C:G
Gene:: AOPEP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.94773066C>G, NC_000009.11:g.97535348C>G, NG_027833.1:g.51398C>G, NM_032823.6:c.862C>G, NM_032823.5:c.862C>G, NM_001193331.3:c.862C>G, NM_001193331.2:c.862C>G, NM_001193329.3:c.862C>G, NM_001193329.2:c.862C>G, NM_001193329.1:c.862C>G, NM_001386063.2:c.862C>G, NM_001386063.1:c.862C>G, NR_169863.2:n.1050C>G, NR_169863.1:n.1050C>G, NM_001386074.1:c.862C>G, NM_001386075.1:c.862C>G, NM_001386071.1:c.862C>G, NM_001386076.1:c.862C>G, NM_001386068.1:c.862C>G, NM_001386066.1:c.862C>G, NR_169862.1:n.1050C>G, NM_001386070.1:c.862C>G, NM_001386069.1:c.862C>G, NR_169864.1:n.1050C>G, NM_001386072.1:c.862C>G, NM_001386067.1:c.862C>G, NM_001386073.1:c.-9C>G, XM_011519134.4:c.862C>G, XM_011519134.3:c.862C>G, XM_011519134.2:c.862C>G, XM_011519134.1:c.862C>G, XM_011519122.4:c.862C>G, XM_011519122.3:c.862C>G, XM_011519122.2:c.862C>G, XM_011519122.1:c.862C>G, XM_011519121.4:c.862C>G, XM_011519121.3:c.862C>G, XM_011519121.2:c.862C>G, XM_011519121.1:c.862C>G, XM_011519123.4:c.862C>G, XM_011519123.3:c.862C>G, XM_011519123.2:c.862C>G, XM_011519123.1:c.862C>G, XM_017015232.3:c.862C>G, XM_017015232.2:c.862C>G, XM_017015232.1:c.862C>G, XR_929854.3:n.1050C>G, XR_929854.2:n.1080C>G, XR_929854.1:n.1145C>G, XR_929853.3:n.1050C>G, XR_929853.2:n.1080C>G, XR_929853.1:n.1145C>G, XM_017015231.3:c.862C>G, XM_017015231.2:c.862C>G, XM_017015231.1:c.862C>G, XR_929855.3:n.1050C>G, XR_929855.2:n.1080C>G, XR_929855.1:n.1145C>G, XM_011519130.3:c.862C>G, XM_011519130.2:c.862C>G, XM_011519130.1:c.862C>G, XM_011519127.3:c.862C>G, XM_011519127.2:c.862C>G, XM_011519127.1:c.862C>G, XR_929857.3:n.1050C>G, XR_929857.2:n.1080C>G, XR_929857.1:n.1145C>G, XR_007061365.1:n.1050C>G, XM_047423980.1:c.862C>G, XM_047423985.1:c.862C>G, XR_007061364.1:n.1050C>G, XR_007061363.1:n.1050C>G, XM_047423978.1:c.862C>G, XM_047423979.1:c.862C>G, XM_047423982.1:c.862C>G, XM_047423984.1:c.862C>G, XM_047423983.1:c.862C>G, XM_047423981.1:c.862C>G, NM_001193330.1:c.862C>G, NP_116212.3:p.Pro288Ala, NP_001180260.1:p.Pro288Ala, NP_001180258.1:p.Pro288Ala, NP_001372992.1:p.Pro288Ala, NP_001373003.1:p.Pro288Ala, NP_001373004.1:p.Pro288Ala, NP_001373000.1:p.Pro288Ala, NP_001373005.1:p.Pro288Ala, NP_001372997.1:p.Pro288Ala, NP_001372995.1:p.Pro288Ala, NP_001372999.1:p.Pro288Ala, NP_001372998.1:p.Pro288Ala, NP_001373001.1:p.Pro288Ala, NP_001372996.1:p.Pro288Ala, XP_011517436.1:p.Pro288Ala, XP_011517424.1:p.Pro288Ala, XP_011517423.1:p.Pro288Ala, XP_011517425.1:p.Pro288Ala, XP_016870721.1:p.Pro288Ala, XP_016870720.1:p.Pro288Ala, XP_011517432.1:p.Pro288Ala, XP_011517429.1:p.Pro288Ala, XP_047279936.1:p.Pro288Ala, XP_047279941.1:p.Pro288Ala, XP_047279934.1:p.Pro288Ala, XP_047279935.1:p.Pro288Ala, XP_047279938.1:p.Pro288Ala, XP_047279940.1:p.Pro288Ala, XP_047279939.1:p.Pro288Ala, XP_047279937.1:p.Pro288Ala

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