SNP Links for Protein (Select 384367986) - SNP

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Links from Protein

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Select item 14908861401.

rs1490886140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:111318668 (GRCh38)
1:111861290 (GRCh37)
Canonical SPDI:: NC_000001.11:111318667:C:G
Gene:: CHIA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111318668C>G, NC_000001.10:g.111861290C>G, NM_201653.4:c.905C>G, NM_201653.3:c.905C>G, NM_021797.4:c.581C>G, NM_021797.3:c.581C>G, NM_001040623.3:c.422C>G, NM_001040623.2:c.422C>G, NM_001258004.2:c.422C>G, NM_001258004.1:c.422C>G, NM_001258001.2:c.581C>G, NM_001258001.1:c.581C>G, NM_001258005.2:c.422C>G, NM_001258005.1:c.422C>G, NM_001258003.2:c.581C>G, NM_001258003.1:c.581C>G, NM_001258002.2:c.422C>G, NM_001258002.1:c.422C>G, XM_017001047.1:c.422C>G, NP_970615.2:p.Ala302Gly, NP_068569.2:p.Ala194Gly, NP_001035713.1:p.Ala141Gly, NP_001244933.1:p.Ala141Gly, NP_001244930.1:p.Ala194Gly, NP_001244934.1:p.Ala141Gly, NP_001244932.1:p.Ala194Gly, NP_001244931.1:p.Ala141Gly, XP_016856536.1:p.Ala141Gly

Select item 14903916262.

rs1490391626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:111319346 (GRCh38)
1:111861968 (GRCh37)
Canonical SPDI:: NC_000001.11:111319345:A:G
Gene:: CHIA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111319346A>G, NC_000001.10:g.111861968A>G, NM_201653.4:c.1055A>G, NM_201653.3:c.1055A>G, NM_021797.4:c.731A>G, NM_021797.3:c.731A>G, NM_001040623.3:c.572A>G, NM_001040623.2:c.572A>G, NM_001258004.2:c.572A>G, NM_001258004.1:c.572A>G, NM_001258001.2:c.731A>G, NM_001258001.1:c.731A>G, NM_001258005.2:c.572A>G, NM_001258005.1:c.572A>G, NM_001258003.2:c.731A>G, NM_001258003.1:c.731A>G, NM_001258002.2:c.572A>G, NM_001258002.1:c.572A>G, XM_017001047.1:c.572A>G, NP_970615.2:p.Asn352Ser, NP_068569.2:p.Asn244Ser, NP_001035713.1:p.Asn191Ser, NP_001244933.1:p.Asn191Ser, NP_001244930.1:p.Asn244Ser, NP_001244934.1:p.Asn191Ser, NP_001244932.1:p.Asn244Ser, NP_001244931.1:p.Asn191Ser, XP_016856536.1:p.Asn191Ser

Select item 14797850813.

rs1479785081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:111317760 (GRCh38)
1:111860382 (GRCh37)
Canonical SPDI:: NC_000001.11:111317759:G:C
Gene:: CHIA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.111317760G>C, NC_000001.10:g.111860382G>C, NM_201653.4:c.560G>C, NM_201653.3:c.560G>C, NM_021797.4:c.236G>C, NM_021797.3:c.236G>C, NM_001040623.3:c.77G>C, NM_001040623.2:c.77G>C, NM_001258004.2:c.77G>C, NM_001258004.1:c.77G>C, NM_001258001.2:c.236G>C, NM_001258001.1:c.236G>C, NM_001258005.2:c.77G>C, NM_001258005.1:c.77G>C, NM_001258003.2:c.236G>C, NM_001258003.1:c.236G>C, NM_001258002.2:c.77G>C, NM_001258002.1:c.77G>C, XM_017001047.1:c.77G>C, NP_970615.2:p.Gly187Ala, NP_068569.2:p.Gly79Ala, NP_001035713.1:p.Gly26Ala, NP_001244933.1:p.Gly26Ala, NP_001244930.1:p.Gly79Ala, NP_001244934.1:p.Gly26Ala, NP_001244932.1:p.Gly79Ala, NP_001244931.1:p.Gly26Ala, XP_016856536.1:p.Gly26Ala

Select item 14767882364.

rs1476788236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:111317744 (GRCh38)
1:111860366 (GRCh37)
Canonical SPDI:: NC_000001.11:111317743:G:A
Gene:: CHIA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.111317744G>A, NC_000001.10:g.111860366G>A, NM_201653.4:c.544G>A, NM_201653.3:c.544G>A, NM_021797.4:c.220G>A, NM_021797.3:c.220G>A, NM_001040623.3:c.61G>A, NM_001040623.2:c.61G>A, NM_001258004.2:c.61G>A, NM_001258004.1:c.61G>A, NM_001258001.2:c.220G>A, NM_001258001.1:c.220G>A, NM_001258005.2:c.61G>A, NM_001258005.1:c.61G>A, NM_001258003.2:c.220G>A, NM_001258003.1:c.220G>A, NM_001258002.2:c.61G>A, NM_001258002.1:c.61G>A, XM_017001047.1:c.61G>A, NP_970615.2:p.Ala182Thr, NP_068569.2:p.Ala74Thr, NP_001035713.1:p.Ala21Thr, NP_001244933.1:p.Ala21Thr, NP_001244930.1:p.Ala74Thr, NP_001244934.1:p.Ala21Thr, NP_001244932.1:p.Ala74Thr, NP_001244931.1:p.Ala21Thr, XP_016856536.1:p.Ala21Thr

Select item 14707131215.

rs1470713121 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:111320458 (GRCh38)
1:111863080 (GRCh37)
Canonical SPDI:: NC_000001.11:111320457:T:A
Gene:: CHIA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111320458T>A, NC_000001.10:g.111863080T>A, NM_201653.4:c.1423T>A, NM_201653.3:c.1423T>A, NM_021797.4:c.1099T>A, NM_021797.3:c.1099T>A, NM_001040623.3:c.940T>A, NM_001040623.2:c.940T>A, NM_001258004.2:c.940T>A, NM_001258004.1:c.940T>A, NM_001258001.2:c.1099T>A, NM_001258001.1:c.1099T>A, NM_001258005.2:c.940T>A, NM_001258005.1:c.940T>A, NM_001258003.2:c.1099T>A, NM_001258003.1:c.1099T>A, NM_001258002.2:c.940T>A, NM_001258002.1:c.940T>A, XM_017001047.1:c.940T>A, NP_970615.2:p.Trp475Arg, NP_068569.2:p.Trp367Arg, NP_001035713.1:p.Trp314Arg, NP_001244933.1:p.Trp314Arg, NP_001244930.1:p.Trp367Arg, NP_001244934.1:p.Trp314Arg, NP_001244932.1:p.Trp367Arg, NP_001244931.1:p.Trp314Arg, XP_016856536.1:p.Trp314Arg

Select item 14647690056.

rs1464769005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:111318536 (GRCh38)
1:111861158 (GRCh37)
Canonical SPDI:: NC_000001.11:111318535:A:G
Gene:: CHIA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111318536A>G, NC_000001.10:g.111861158A>G, NM_201653.4:c.773A>G, NM_201653.3:c.773A>G, NM_021797.4:c.449A>G, NM_021797.3:c.449A>G, NM_001040623.3:c.290A>G, NM_001040623.2:c.290A>G, NM_001258004.2:c.290A>G, NM_001258004.1:c.290A>G, NM_001258001.2:c.449A>G, NM_001258001.1:c.449A>G, NM_001258005.2:c.290A>G, NM_001258005.1:c.290A>G, NM_001258003.2:c.449A>G, NM_001258003.1:c.449A>G, NM_001258002.2:c.290A>G, NM_001258002.1:c.290A>G, XM_017001047.1:c.290A>G, NP_970615.2:p.Glu258Gly, NP_068569.2:p.Glu150Gly, NP_001035713.1:p.Glu97Gly, NP_001244933.1:p.Glu97Gly, NP_001244930.1:p.Glu150Gly, NP_001244934.1:p.Glu97Gly, NP_001244932.1:p.Glu150Gly, NP_001244931.1:p.Glu97Gly, XP_016856536.1:p.Glu97Gly

Select item 14644037177.

rs1464403717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:111319176 (GRCh38)
1:111861798 (GRCh37)
Canonical SPDI:: NC_000001.11:111319175:G:A
Gene:: CHIA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111319176G>A, NC_000001.10:g.111861798G>A, NM_201653.4:c.972G>A, NM_201653.3:c.972G>A, NM_021797.4:c.648G>A, NM_021797.3:c.648G>A, NM_001040623.3:c.489G>A, NM_001040623.2:c.489G>A, NM_001258004.2:c.489G>A, NM_001258004.1:c.489G>A, NM_001258001.2:c.648G>A, NM_001258001.1:c.648G>A, NM_001258005.2:c.489G>A, NM_001258005.1:c.489G>A, NM_001258003.2:c.648G>A, NM_001258003.1:c.648G>A, NM_001258002.2:c.489G>A, NM_001258002.1:c.489G>A, XM_017001047.1:c.489G>A

Select item 14624558608.

rs1462455860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:111319170 (GRCh38)
1:111861792 (GRCh37)
Canonical SPDI:: NC_000001.11:111319169:G:A
Gene:: CHIA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.111319170G>A, NC_000001.10:g.111861792G>A, NM_201653.4:c.966G>A, NM_201653.3:c.966G>A, NM_021797.4:c.642G>A, NM_021797.3:c.642G>A, NM_001040623.3:c.483G>A, NM_001040623.2:c.483G>A, NM_001258004.2:c.483G>A, NM_001258004.1:c.483G>A, NM_001258001.2:c.642G>A, NM_001258001.1:c.642G>A, NM_001258005.2:c.483G>A, NM_001258005.1:c.483G>A, NM_001258003.2:c.642G>A, NM_001258003.1:c.642G>A, NM_001258002.2:c.483G>A, NM_001258002.1:c.483G>A, XM_017001047.1:c.483G>A

Select item 14621688499.

rs1462168849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:111318544 (GRCh38)
1:111861166 (GRCh37)
Canonical SPDI:: NC_000001.11:111318543:A:G
Gene:: CHIA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000102/2 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111318544A>G, NC_000001.10:g.111861166A>G, NM_201653.4:c.781A>G, NM_201653.3:c.781A>G, NM_021797.4:c.457A>G, NM_021797.3:c.457A>G, NM_001040623.3:c.298A>G, NM_001040623.2:c.298A>G, NM_001258004.2:c.298A>G, NM_001258004.1:c.298A>G, NM_001258001.2:c.457A>G, NM_001258001.1:c.457A>G, NM_001258005.2:c.298A>G, NM_001258005.1:c.298A>G, NM_001258003.2:c.457A>G, NM_001258003.1:c.457A>G, NM_001258002.2:c.298A>G, NM_001258002.1:c.298A>G, XM_017001047.1:c.298A>G, NP_970615.2:p.Ile261Val, NP_068569.2:p.Ile153Val, NP_001035713.1:p.Ile100Val, NP_001244933.1:p.Ile100Val, NP_001244930.1:p.Ile153Val, NP_001244934.1:p.Ile100Val, NP_001244932.1:p.Ile153Val, NP_001244931.1:p.Ile100Val, XP_016856536.1:p.Ile100Val

Select item 145722492210.

rs1457224922 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:111319428 (GRCh38)
1:111862050 (GRCh37)
Canonical SPDI:: NC_000001.11:111319427:A:G
Gene:: CHIA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111319428A>G, NC_000001.10:g.111862050A>G, NM_201653.4:c.1137A>G, NM_201653.3:c.1137A>G, NM_021797.4:c.813A>G, NM_021797.3:c.813A>G, NM_001040623.3:c.654A>G, NM_001040623.2:c.654A>G, NM_001258004.2:c.654A>G, NM_001258004.1:c.654A>G, NM_001258001.2:c.813A>G, NM_001258001.1:c.813A>G, NM_001258005.2:c.654A>G, NM_001258005.1:c.654A>G, NM_001258003.2:c.813A>G, NM_001258003.1:c.813A>G, NM_001258002.2:c.654A>G, NM_001258002.1:c.654A>G, XM_017001047.1:c.654A>G

Select item 145609872811.

rs1456098728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111320377 (GRCh38)
1:111862999 (GRCh37)
Canonical SPDI:: NC_000001.11:111320376:T:C
Gene:: CHIA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111320377T>C, NC_000001.10:g.111862999T>C, NM_201653.4:c.1342T>C, NM_201653.3:c.1342T>C, NM_021797.4:c.1018T>C, NM_021797.3:c.1018T>C, NM_001040623.3:c.859T>C, NM_001040623.2:c.859T>C, NM_001258004.2:c.859T>C, NM_001258004.1:c.859T>C, NM_001258001.2:c.1018T>C, NM_001258001.1:c.1018T>C, NM_001258005.2:c.859T>C, NM_001258005.1:c.859T>C, NM_001258003.2:c.1018T>C, NM_001258003.1:c.1018T>C, NM_001258002.2:c.859T>C, NM_001258002.1:c.859T>C, XM_017001047.1:c.859T>C, NP_970615.2:p.Trp448Arg, NP_068569.2:p.Trp340Arg, NP_001035713.1:p.Trp287Arg, NP_001244933.1:p.Trp287Arg, NP_001244930.1:p.Trp340Arg, NP_001244934.1:p.Trp287Arg, NP_001244932.1:p.Trp340Arg, NP_001244931.1:p.Trp287Arg, XP_016856536.1:p.Trp287Arg

Select item 145037099112.

rs1450370991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111315290 (GRCh38)
1:111857912 (GRCh37)
Canonical SPDI:: NC_000001.11:111315289:C:T
Gene:: CHIA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.111315290C>T, NC_000001.10:g.111857912C>T, NM_201653.4:c.335C>T, NM_201653.3:c.335C>T, NM_021797.4:c.11C>T, NM_021797.3:c.11C>T, NM_001258004.2:c.-288C>T, NM_001258004.1:c.-288C>T, NM_001258001.2:c.11C>T, NM_001258001.1:c.11C>T, NM_001258003.2:c.11C>T, NM_001258003.1:c.11C>T, NP_970615.2:p.Thr112Ile, NP_068569.2:p.Thr4Ile, NP_001244930.1:p.Thr4Ile, NP_001244932.1:p.Thr4Ile

Select item 144755578713.

rs1447555787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111320375 (GRCh38)
1:111862997 (GRCh37)
Canonical SPDI:: NC_000001.11:111320374:T:C
Gene:: CHIA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111320375T>C, NC_000001.10:g.111862997T>C, NM_201653.4:c.1340T>C, NM_201653.3:c.1340T>C, NM_021797.4:c.1016T>C, NM_021797.3:c.1016T>C, NM_001040623.3:c.857T>C, NM_001040623.2:c.857T>C, NM_001258004.2:c.857T>C, NM_001258004.1:c.857T>C, NM_001258001.2:c.1016T>C, NM_001258001.1:c.1016T>C, NM_001258005.2:c.857T>C, NM_001258005.1:c.857T>C, NM_001258003.2:c.1016T>C, NM_001258003.1:c.1016T>C, NM_001258002.2:c.857T>C, NM_001258002.1:c.857T>C, XM_017001047.1:c.857T>C, NP_970615.2:p.Phe447Ser, NP_068569.2:p.Phe339Ser, NP_001035713.1:p.Phe286Ser, NP_001244933.1:p.Phe286Ser, NP_001244930.1:p.Phe339Ser, NP_001244934.1:p.Phe286Ser, NP_001244932.1:p.Phe339Ser, NP_001244931.1:p.Phe286Ser, XP_016856536.1:p.Phe286Ser

Select item 144618023614.

rs1446180236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:111317794 (GRCh38)
1:111860416 (GRCh37)
Canonical SPDI:: NC_000001.11:111317793:C:G
Gene:: CHIA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111317794C>G, NC_000001.10:g.111860416C>G, NM_201653.4:c.594C>G, NM_201653.3:c.594C>G, NM_021797.4:c.270C>G, NM_021797.3:c.270C>G, NM_001040623.3:c.111C>G, NM_001040623.2:c.111C>G, NM_001258004.2:c.111C>G, NM_001258004.1:c.111C>G, NM_001258001.2:c.270C>G, NM_001258001.1:c.270C>G, NM_001258005.2:c.111C>G, NM_001258005.1:c.111C>G, NM_001258003.2:c.270C>G, NM_001258003.1:c.270C>G, NM_001258002.2:c.111C>G, NM_001258002.1:c.111C>G, XM_017001047.1:c.111C>G

Select item 144533403515.

rs1445334035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:111317758 (GRCh38)
1:111860380 (GRCh37)
Canonical SPDI:: NC_000001.11:111317757:T:A,NC_000001.11:111317757:T:C
Gene:: CHIA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.111317758T>A, NC_000001.11:g.111317758T>C, NC_000001.10:g.111860380T>A, NC_000001.10:g.111860380T>C, NM_201653.4:c.558T>A, NM_201653.4:c.558T>C, NM_201653.3:c.558T>A, NM_201653.3:c.558T>C, NM_021797.4:c.234T>A, NM_021797.4:c.234T>C, NM_021797.3:c.234T>A, NM_021797.3:c.234T>C, NM_001040623.3:c.75T>A, NM_001040623.3:c.75T>C, NM_001040623.2:c.75T>A, NM_001040623.2:c.75T>C, NM_001258004.2:c.75T>A, NM_001258004.2:c.75T>C, NM_001258004.1:c.75T>A, NM_001258004.1:c.75T>C, NM_001258001.2:c.234T>A, NM_001258001.2:c.234T>C, NM_001258001.1:c.234T>A, NM_001258001.1:c.234T>C, NM_001258005.2:c.75T>A, NM_001258005.2:c.75T>C, NM_001258005.1:c.75T>A, NM_001258005.1:c.75T>C, NM_001258003.2:c.234T>A, NM_001258003.2:c.234T>C, NM_001258003.1:c.234T>A, NM_001258003.1:c.234T>C, NM_001258002.2:c.75T>A, NM_001258002.2:c.75T>C, NM_001258002.1:c.75T>A, NM_001258002.1:c.75T>C, XM_017001047.1:c.75T>A, XM_017001047.1:c.75T>C

Select item 143314106916.

rs1433141069 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111320383 (GRCh38)
1:111863005 (GRCh37)
Canonical SPDI:: NC_000001.11:111320382:T:C
Gene:: CHIA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.111320383T>C, NC_000001.10:g.111863005T>C, NM_201653.4:c.1348T>C, NM_201653.3:c.1348T>C, NM_021797.4:c.1024T>C, NM_021797.3:c.1024T>C, NM_001040623.3:c.865T>C, NM_001040623.2:c.865T>C, NM_001258004.2:c.865T>C, NM_001258004.1:c.865T>C, NM_001258001.2:c.1024T>C, NM_001258001.1:c.1024T>C, NM_001258005.2:c.865T>C, NM_001258005.1:c.865T>C, NM_001258003.2:c.1024T>C, NM_001258003.1:c.1024T>C, NM_001258002.2:c.865T>C, NM_001258002.1:c.865T>C, XM_017001047.1:c.865T>C, NP_970615.2:p.Cys450Arg, NP_068569.2:p.Cys342Arg, NP_001035713.1:p.Cys289Arg, NP_001244933.1:p.Cys289Arg, NP_001244930.1:p.Cys342Arg, NP_001244934.1:p.Cys289Arg, NP_001244932.1:p.Cys342Arg, NP_001244931.1:p.Cys289Arg, XP_016856536.1:p.Cys289Arg

Select item 143075196117.

rs1430751961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:111319415 (GRCh38)
1:111862037 (GRCh37)
Canonical SPDI:: NC_000001.11:111319414:G:T
Gene:: CHIA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111319415G>T, NC_000001.10:g.111862037G>T, NM_201653.4:c.1124G>T, NM_201653.3:c.1124G>T, NM_021797.4:c.800G>T, NM_021797.3:c.800G>T, NM_001040623.3:c.641G>T, NM_001040623.2:c.641G>T, NM_001258004.2:c.641G>T, NM_001258004.1:c.641G>T, NM_001258001.2:c.800G>T, NM_001258001.1:c.800G>T, NM_001258005.2:c.641G>T, NM_001258005.1:c.641G>T, NM_001258003.2:c.800G>T, NM_001258003.1:c.800G>T, NM_001258002.2:c.641G>T, NM_001258002.1:c.641G>T, XM_017001047.1:c.641G>T, NP_970615.2:p.Gly375Val, NP_068569.2:p.Gly267Val, NP_001035713.1:p.Gly214Val, NP_001244933.1:p.Gly214Val, NP_001244930.1:p.Gly267Val, NP_001244934.1:p.Gly214Val, NP_001244932.1:p.Gly267Val, NP_001244931.1:p.Gly214Val, XP_016856536.1:p.Gly214Val

Select item 142557606518.

rs1425576065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111319424 (GRCh38)
1:111862046 (GRCh37)
Canonical SPDI:: NC_000001.11:111319423:C:T
Gene:: CHIA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111319424C>T, NC_000001.10:g.111862046C>T, NM_201653.4:c.1133C>T, NM_201653.3:c.1133C>T, NM_021797.4:c.809C>T, NM_021797.3:c.809C>T, NM_001040623.3:c.650C>T, NM_001040623.2:c.650C>T, NM_001258004.2:c.650C>T, NM_001258004.1:c.650C>T, NM_001258001.2:c.809C>T, NM_001258001.1:c.809C>T, NM_001258005.2:c.650C>T, NM_001258005.1:c.650C>T, NM_001258003.2:c.809C>T, NM_001258003.1:c.809C>T, NM_001258002.2:c.650C>T, NM_001258002.1:c.650C>T, XM_017001047.1:c.650C>T, NP_970615.2:p.Pro378Leu, NP_068569.2:p.Pro270Leu, NP_001035713.1:p.Pro217Leu, NP_001244933.1:p.Pro217Leu, NP_001244930.1:p.Pro270Leu, NP_001244934.1:p.Pro217Leu, NP_001244932.1:p.Pro270Leu, NP_001244931.1:p.Pro217Leu, XP_016856536.1:p.Pro217Leu

Select item 142221181419.

rs1422211814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:111317724 (GRCh38)
1:111860346 (GRCh37)
Canonical SPDI:: NC_000001.11:111317723:A:C
Gene:: CHIA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111317724A>C, NC_000001.10:g.111860346A>C, NM_201653.4:c.524A>C, NM_201653.3:c.524A>C, NM_021797.4:c.200A>C, NM_021797.3:c.200A>C, NM_001040623.3:c.41A>C, NM_001040623.2:c.41A>C, NM_001258004.2:c.41A>C, NM_001258004.1:c.41A>C, NM_001258001.2:c.200A>C, NM_001258001.1:c.200A>C, NM_001258005.2:c.41A>C, NM_001258005.1:c.41A>C, NM_001258003.2:c.200A>C, NM_001258003.1:c.200A>C, NM_001258002.2:c.41A>C, NM_001258002.1:c.41A>C, XM_017001047.1:c.41A>C, NP_970615.2:p.Lys175Thr, NP_068569.2:p.Lys67Thr, NP_001035713.1:p.Lys14Thr, NP_001244933.1:p.Lys14Thr, NP_001244930.1:p.Lys67Thr, NP_001244934.1:p.Lys14Thr, NP_001244932.1:p.Lys67Thr, NP_001244931.1:p.Lys14Thr, XP_016856536.1:p.Lys14Thr

Select item 142062123120.

rs1420621231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:111318106 (GRCh38)
1:111860728 (GRCh37)
Canonical SPDI:: NC_000001.11:111318105:T:G
Gene:: CHIA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111318106T>G, NC_000001.10:g.111860728T>G, NM_201653.4:c.726T>G, NM_201653.3:c.726T>G, NM_021797.4:c.402T>G, NM_021797.3:c.402T>G, NM_001040623.3:c.243T>G, NM_001040623.2:c.243T>G, NM_001258004.2:c.243T>G, NM_001258004.1:c.243T>G, NM_001258001.2:c.402T>G, NM_001258001.1:c.402T>G, NM_001258005.2:c.243T>G, NM_001258005.1:c.243T>G, NM_001258003.2:c.402T>G, NM_001258003.1:c.402T>G, NM_001258002.2:c.243T>G, NM_001258002.1:c.243T>G, XM_017001047.1:c.243T>G, NP_970615.2:p.Asn242Lys, NP_068569.2:p.Asn134Lys, NP_001035713.1:p.Asn81Lys, NP_001244933.1:p.Asn81Lys, NP_001244930.1:p.Asn134Lys, NP_001244934.1:p.Asn81Lys, NP_001244932.1:p.Asn134Lys, NP_001244931.1:p.Asn81Lys, XP_016856536.1:p.Asn81Lys

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