SNP Links for Protein (Select 1034595516) - SNP

Links from Protein

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Select item 14903819101.

rs1490381910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:792225 (GRCh38)
16:842225 (GRCh37)
Canonical SPDI:: NC_000016.10:792224:G:A
Gene:: CHTF18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.792225G>A, NC_000016.9:g.842225G>A, NG_047098.1:g.1163C>T, XM_005255471.4:c.1288G>A, XM_005255471.3:c.1288G>A, XM_005255471.2:c.1288G>A, XM_005255471.1:c.1288G>A, NM_022092.3:c.1204G>A, NM_022092.2:c.1204G>A, XM_011522572.2:c.1207G>A, XM_011522572.1:c.1207G>A, XM_017023532.2:c.1141G>A, XM_017023532.1:c.1141G>A, XP_005255528.1:p.Asp430Asn, NP_071375.1:p.Asp402Asn, XP_011520874.1:p.Asp403Asn, XP_016879021.1:p.Asp381Asn

Select item 14900965072.

rs1490096507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:795243 (GRCh38)
16:845243 (GRCh37)
Canonical SPDI:: NC_000016.10:795242:C:T
Gene:: CHTF18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.795243C>T, NC_000016.9:g.845243C>T, XM_005255471.4:c.2146C>T, XM_005255471.3:c.2146C>T, XM_005255471.2:c.2146C>T, XM_005255471.1:c.2146C>T, NM_022092.3:c.2062C>T, NM_022092.2:c.2062C>T, XM_011522572.2:c.2065C>T, XM_011522572.1:c.2065C>T, XM_017023532.2:c.1999C>T, XM_017023532.1:c.1999C>T, XP_005255528.1:p.His716Tyr, NP_071375.1:p.His688Tyr, XP_011520874.1:p.His689Tyr, XP_016879021.1:p.His667Tyr

Select item 14897327243.

rs1489732724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:789060 (GRCh38)
16:839060 (GRCh37)
Canonical SPDI:: NC_000016.10:789059:G:A
Gene:: CHTF18 (Varview), RPUSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/4 (GnomAD_exomes)
HGVS:: NC_000016.10:g.789060G>A, NC_000016.9:g.839060G>A, NG_047098.1:g.4328C>T, XM_005255471.4:c.221G>A, XM_005255471.3:c.221G>A, XM_005255471.2:c.221G>A, XM_005255471.1:c.221G>A, NM_022092.3:c.221G>A, NM_022092.2:c.221G>A, XM_011522572.2:c.224G>A, XM_011522572.1:c.224G>A, XM_017023532.2:c.165G>A, XM_017023532.1:c.165G>A, XP_005255528.1:p.Ser74Asn, NP_071375.1:p.Ser74Asn, XP_011520874.1:p.Ser75Asn

Select item 14891434314.

rs1489143431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:788734 (GRCh38)
16:838734 (GRCh37)
Canonical SPDI:: NC_000016.10:788733:A:G
Gene:: CHTF18 (Varview), RPUSD1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.788734A>G, NC_000016.9:g.838734A>G, NG_047098.1:g.4654T>C, XM_005255471.4:c.50A>G, XM_005255471.3:c.50A>G, XM_005255471.2:c.50A>G, XM_005255471.1:c.50A>G, NM_022092.3:c.50A>G, NM_022092.2:c.50A>G, XM_011522572.2:c.50A>G, XM_011522572.1:c.50A>G, XM_017023532.2:c.13A>G, XM_017023532.1:c.13A>G, XP_005255528.1:p.Asn17Ser, NP_071375.1:p.Asn17Ser, XP_011520874.1:p.Asn17Ser, XP_016879021.1:p.Thr5Ala

Select item 14886114015.

rs1488611401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:792578 (GRCh38)
16:842578 (GRCh37)
Canonical SPDI:: NC_000016.10:792577:T:C
Gene:: CHTF18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.792578T>C, NC_000016.9:g.842578T>C, NG_047098.1:g.810A>G, XM_005255471.4:c.1550T>C, XM_005255471.3:c.1550T>C, XM_005255471.2:c.1550T>C, XM_005255471.1:c.1550T>C, NM_022092.3:c.1466T>C, NM_022092.2:c.1466T>C, XM_011522572.2:c.1469T>C, XM_011522572.1:c.1469T>C, XM_017023532.2:c.1403T>C, XM_017023532.1:c.1403T>C, XP_005255528.1:p.Ile517Thr, NP_071375.1:p.Ile489Thr, XP_011520874.1:p.Ile490Thr, XP_016879021.1:p.Ile468Thr

Select item 14884356216.

rs1488435621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:791250 (GRCh38)
16:841250 (GRCh37)
Canonical SPDI:: NC_000016.10:791249:T:G
Gene:: CHTF18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.791250T>G, NC_000016.9:g.841250T>G, NG_047098.1:g.2138A>C, XM_005255471.4:c.1068T>G, XM_005255471.3:c.1068T>G, XM_005255471.2:c.1068T>G, XM_005255471.1:c.1068T>G, NM_022092.3:c.984T>G, NM_022092.2:c.984T>G, XM_011522572.2:c.987T>G, XM_011522572.1:c.987T>G, XM_017023532.2:c.921T>G, XM_017023532.1:c.921T>G, XP_005255528.1:p.Ser356Arg, NP_071375.1:p.Ser328Arg, XP_011520874.1:p.Ser329Arg, XP_016879021.1:p.Ser307Arg

Select item 14878288357.

rs1487828835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:794081 (GRCh38)
16:844081 (GRCh37)
Canonical SPDI:: NC_000016.10:794080:G:C
Gene:: CHTF18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.794081G>C, NC_000016.9:g.844081G>C, XM_005255471.4:c.1914G>C, XM_005255471.3:c.1914G>C, XM_005255471.2:c.1914G>C, XM_005255471.1:c.1914G>C, NM_022092.3:c.1830G>C, NM_022092.2:c.1830G>C, XM_011522572.2:c.1833G>C, XM_011522572.1:c.1833G>C, XM_017023532.2:c.1767G>C, XM_017023532.1:c.1767G>C

Select item 14870842408.

rs1487084240 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:792984 (GRCh38)
16:842984 (GRCh37)
Canonical SPDI:: NC_000016.10:792983:A:G
Gene:: CHTF18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.792984A>G, NC_000016.9:g.842984A>G, NG_047098.1:g.404T>C, XM_005255471.4:c.1675A>G, XM_005255471.3:c.1675A>G, XM_005255471.2:c.1675A>G, XM_005255471.1:c.1675A>G, NM_022092.3:c.1591A>G, NM_022092.2:c.1591A>G, XM_011522572.2:c.1594A>G, XM_011522572.1:c.1594A>G, XM_017023532.2:c.1528A>G, XM_017023532.1:c.1528A>G, XP_005255528.1:p.Met559Val, NP_071375.1:p.Met531Val, XP_011520874.1:p.Met532Val, XP_016879021.1:p.Met510Val

Select item 14868359259.

rs1486835925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:790194 (GRCh38)
16:840194 (GRCh37)
Canonical SPDI:: NC_000016.10:790193:C:T
Gene:: CHTF18 (Varview), RPUSD1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.790194C>T, NC_000016.9:g.840194C>T, NG_047098.1:g.3194G>A, XM_005255471.4:c.708C>T, XM_005255471.3:c.708C>T, XM_005255471.2:c.708C>T, XM_005255471.1:c.708C>T, NM_022092.3:c.624C>T, NM_022092.2:c.624C>T, XM_011522572.2:c.627C>T, XM_011522572.1:c.627C>T, XM_017023532.2:c.561C>T, XM_017023532.1:c.561C>T

Select item 148630345410.

rs1486303454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:795696 (GRCh38)
16:845696 (GRCh37)
Canonical SPDI:: NC_000016.10:795695:G:C
Gene:: CHTF18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.795696G>C, NC_000016.9:g.845696G>C, XM_005255471.4:c.2271G>C, XM_005255471.3:c.2271G>C, XM_005255471.2:c.2271G>C, XM_005255471.1:c.2271G>C, NM_022092.3:c.2187G>C, NM_022092.2:c.2187G>C, XM_011522572.2:c.2190G>C, XM_011522572.1:c.2190G>C, XM_017023532.2:c.2124G>C, XM_017023532.1:c.2124G>C

Select item 148610655611.

rs1486106556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:795340 (GRCh38)
16:845340 (GRCh37)
Canonical SPDI:: NC_000016.10:795339:C:T
Gene:: CHTF18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.795340C>T, NC_000016.9:g.845340C>T, XM_005255471.4:c.2243C>T, XM_005255471.3:c.2243C>T, XM_005255471.2:c.2243C>T, XM_005255471.1:c.2243C>T, NM_022092.3:c.2159C>T, NM_022092.2:c.2159C>T, XM_011522572.2:c.2162C>T, XM_011522572.1:c.2162C>T, XM_017023532.2:c.2096C>T, XM_017023532.1:c.2096C>T, XP_005255528.1:p.Pro748Leu, NP_071375.1:p.Pro720Leu, XP_011520874.1:p.Pro721Leu, XP_016879021.1:p.Pro699Leu

Select item 148499494412.

rs1484994944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:790265 (GRCh38)
16:840265 (GRCh37)
Canonical SPDI:: NC_000016.10:790264:G:C
Gene:: CHTF18 (Varview), RPUSD1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.790265G>C, NC_000016.9:g.840265G>C, NG_047098.1:g.3123C>G, XM_005255471.4:c.779G>C, XM_005255471.3:c.779G>C, XM_005255471.2:c.779G>C, XM_005255471.1:c.779G>C, NM_022092.3:c.695G>C, NM_022092.2:c.695G>C, XM_011522572.2:c.698G>C, XM_011522572.1:c.698G>C, XM_017023532.2:c.632G>C, XM_017023532.1:c.632G>C, XP_005255528.1:p.Gly260Ala, NP_071375.1:p.Gly232Ala, XP_011520874.1:p.Gly233Ala, XP_016879021.1:p.Gly211Ala

Select item 148491675213.

rs1484916752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:789613 (GRCh38)
16:839613 (GRCh37)
Canonical SPDI:: NC_000016.10:789612:G:A,NC_000016.10:789612:G:C
Gene:: CHTF18 (Varview), RPUSD1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.789613G>A, NC_000016.10:g.789613G>C, NC_000016.9:g.839613G>A, NC_000016.9:g.839613G>C, NG_047098.1:g.3775C>T, NG_047098.1:g.3775C>G, XM_005255471.4:c.588G>A, XM_005255471.4:c.588G>C, XM_005255471.3:c.588G>A, XM_005255471.3:c.588G>C, XM_005255471.2:c.588G>A, XM_005255471.2:c.588G>C, XM_005255471.1:c.588G>A, XM_005255471.1:c.588G>C, NM_022092.3:c.504G>A, NM_022092.3:c.504G>C, NM_022092.2:c.504G>A, NM_022092.2:c.504G>C, XM_011522572.2:c.507G>A, XM_011522572.2:c.507G>C, XM_011522572.1:c.507G>A, XM_011522572.1:c.507G>C, XM_017023532.2:c.441G>A, XM_017023532.2:c.441G>C, XM_017023532.1:c.441G>A, XM_017023532.1:c.441G>C

Select item 148430758614.

rs1484307586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:789089 (GRCh38)
16:839089 (GRCh37)
Canonical SPDI:: NC_000016.10:789088:G:A
Gene:: CHTF18 (Varview), RPUSD1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.789089G>A, NC_000016.9:g.839089G>A, NG_047098.1:g.4299C>T, XM_005255471.4:c.250G>A, XM_005255471.3:c.250G>A, XM_005255471.2:c.250G>A, XM_005255471.1:c.250G>A, NM_022092.3:c.250G>A, NM_022092.2:c.250G>A, XM_011522572.2:c.253G>A, XM_011522572.1:c.253G>A, XM_017023532.2:c.194G>A, XM_017023532.1:c.194G>A, XP_005255528.1:p.Asp84Asn, NP_071375.1:p.Asp84Asn, XP_011520874.1:p.Asp85Asn, XP_016879021.1:p.Gly65Glu

Select item 148298199115.

rs1482981991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:794150 (GRCh38)
16:844150 (GRCh37)
Canonical SPDI:: NC_000016.10:794149:C:T
Gene:: CHTF18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.794150C>T, NC_000016.9:g.844150C>T, XM_005255471.4:c.1983C>T, XM_005255471.3:c.1983C>T, XM_005255471.2:c.1983C>T, XM_005255471.1:c.1983C>T, NM_022092.3:c.1899C>T, NM_022092.2:c.1899C>T, XM_011522572.2:c.1902C>T, XM_011522572.1:c.1902C>T, XM_017023532.2:c.1836C>T, XM_017023532.1:c.1836C>T

Select item 148282542116.

rs1482825421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:788953 (GRCh38)
16:838953 (GRCh37)
Canonical SPDI:: NC_000016.10:788952:C:T
Gene:: CHTF18 (Varview), RPUSD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.788953C>T, NC_000016.9:g.838953C>T, NG_047098.1:g.4435G>A, XM_005255471.4:c.114C>T, XM_005255471.3:c.114C>T, XM_005255471.2:c.114C>T, XM_005255471.1:c.114C>T, NM_022092.3:c.114C>T, NM_022092.2:c.114C>T, XM_011522572.2:c.117C>T, XM_011522572.1:c.117C>T, XM_017023532.2:c.58C>T, XM_017023532.1:c.58C>T, XP_016879021.1:p.Arg20Trp

Select item 148279065917.

rs1482790659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:789573 (GRCh38)
16:839573 (GRCh37)
Canonical SPDI:: NC_000016.10:789572:G:A,NC_000016.10:789572:G:T
Gene:: CHTF18 (Varview), RPUSD1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000016.10:g.789573G>A, NC_000016.10:g.789573G>T, NC_000016.9:g.839573G>A, NC_000016.9:g.839573G>T, NG_047098.1:g.3815C>T, NG_047098.1:g.3815C>A, XM_005255471.4:c.548G>A, XM_005255471.4:c.548G>T, XM_005255471.3:c.548G>A, XM_005255471.3:c.548G>T, XM_005255471.2:c.548G>A, XM_005255471.2:c.548G>T, XM_005255471.1:c.548G>A, XM_005255471.1:c.548G>T, NM_022092.3:c.464G>A, NM_022092.3:c.464G>T, NM_022092.2:c.464G>A, NM_022092.2:c.464G>T, XM_011522572.2:c.467G>A, XM_011522572.2:c.467G>T, XM_011522572.1:c.467G>A, XM_011522572.1:c.467G>T, XM_017023532.2:c.401G>A, XM_017023532.2:c.401G>T, XM_017023532.1:c.401G>A, XM_017023532.1:c.401G>T, XP_005255528.1:p.Gly183Asp, XP_005255528.1:p.Gly183Val, NP_071375.1:p.Gly155Asp, NP_071375.1:p.Gly155Val, XP_011520874.1:p.Gly156Asp, XP_011520874.1:p.Gly156Val, XP_016879021.1:p.Gly134Asp, XP_016879021.1:p.Gly134Val

Select item 147994184618.

rs1479941846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:792524 (GRCh38)
16:842524 (GRCh37)
Canonical SPDI:: NC_000016.10:792523:G:A
Gene:: CHTF18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.792524G>A, NC_000016.9:g.842524G>A, NG_047098.1:g.864C>T, XM_005255471.4:c.1496G>A, XM_005255471.3:c.1496G>A, XM_005255471.2:c.1496G>A, XM_005255471.1:c.1496G>A, NM_022092.3:c.1412G>A, NM_022092.2:c.1412G>A, XM_011522572.2:c.1415G>A, XM_011522572.1:c.1415G>A, XM_017023532.2:c.1349G>A, XM_017023532.1:c.1349G>A, XP_005255528.1:p.Gly499Asp, NP_071375.1:p.Gly471Asp, XP_011520874.1:p.Gly472Asp, XP_016879021.1:p.Gly450Asp

Select item 147989953619.

rs1479899536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:795143 (GRCh38)
16:845143 (GRCh37)
Canonical SPDI:: NC_000016.10:795142:C:G,NC_000016.10:795142:C:T
Gene:: CHTF18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.795143C>G, NC_000016.10:g.795143C>T, NC_000016.9:g.845143C>G, NC_000016.9:g.845143C>T, XM_005255471.4:c.2046C>G, XM_005255471.4:c.2046C>T, XM_005255471.3:c.2046C>G, XM_005255471.3:c.2046C>T, XM_005255471.2:c.2046C>G, XM_005255471.2:c.2046C>T, XM_005255471.1:c.2046C>G, XM_005255471.1:c.2046C>T, NM_022092.3:c.1962C>G, NM_022092.3:c.1962C>T, NM_022092.2:c.1962C>G, NM_022092.2:c.1962C>T, XM_011522572.2:c.1965C>G, XM_011522572.2:c.1965C>T, XM_011522572.1:c.1965C>G, XM_011522572.1:c.1965C>T, XM_017023532.2:c.1899C>G, XM_017023532.2:c.1899C>T, XM_017023532.1:c.1899C>G, XM_017023532.1:c.1899C>T, XP_005255528.1:p.Asp682Glu, NP_071375.1:p.Asp654Glu, XP_011520874.1:p.Asp655Glu, XP_016879021.1:p.Asp633Glu

Select item 147983435020.

rs1479834350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:789228 (GRCh38)
16:839228 (GRCh37)
Canonical SPDI:: NC_000016.10:789227:C:T
Gene:: CHTF18 (Varview), RPUSD1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.789228C>T, NC_000016.9:g.839228C>T, NG_047098.1:g.4160G>A, XM_005255471.4:c.389C>T, XM_005255471.3:c.389C>T, XM_005255471.2:c.389C>T, XM_005255471.1:c.389C>T, NM_022092.3:c.305C>T, NM_022092.2:c.305C>T, XM_011522572.2:c.308C>T, XM_011522572.1:c.308C>T, XM_017023532.2:c.242C>T, XM_017023532.1:c.242C>T, XP_005255528.1:p.Pro130Leu, NP_071375.1:p.Pro102Leu, XP_011520874.1:p.Pro103Leu, XP_016879021.1:p.Pro81Leu

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