SNP Links for Protein (Select 53832021) - SNP

Select item 14833476711.

rs1483347671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 12:68870216 (GRCh38)
12:69263996 (GRCh37)
Canonical SPDI:: NC_000012.12:68870215:T:A,NC_000012.12:68870215:T:G
Gene:: CPM (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.68870216T>A, NC_000012.12:g.68870216T>G, NC_000012.11:g.69263996T>A, NC_000012.11:g.69263996T>G, NM_001874.5:c.615A>T, NM_001874.5:c.615A>C, NM_001874.4:c.615A>T, NM_001874.4:c.615A>C, NM_198320.5:c.615A>T, NM_198320.5:c.615A>C, NM_198320.4:c.615A>T, NM_198320.4:c.615A>C, NM_198320.3:c.615A>T, NM_198320.3:c.615A>C, XR_001748580.3:n.680A>T, XR_001748580.3:n.680A>C, XR_001748580.2:n.639A>T, XR_001748580.2:n.639A>C, XR_001748580.1:n.639A>T, XR_001748580.1:n.639A>C, XR_001748578.3:n.648A>T, XR_001748578.3:n.648A>C, XR_001748578.2:n.648A>T, XR_001748578.2:n.648A>C, XR_001748578.1:n.648A>T, XR_001748578.1:n.648A>C, XR_001748579.3:n.658A>T, XR_001748579.3:n.658A>C, XR_001748579.2:n.661A>T, XR_001748579.2:n.661A>C, XR_001748579.1:n.661A>T, XR_001748579.1:n.661A>C, XR_001748577.3:n.648A>T, XR_001748577.3:n.648A>C, XR_001748577.2:n.648A>T, XR_001748577.2:n.648A>C, XR_001748577.1:n.648A>T, XR_001748577.1:n.648A>C, NM_001005502.2:c.615A>T, NM_001005502.2:c.615A>C, XR_007063050.1:n.520A>T, XR_007063050.1:n.520A>C, NP_001865.1:p.Gln205His, NP_001865.1:p.Gln205His, NP_938079.1:p.Gln205His, NP_938079.1:p.Gln205His, NP_001005502.1:p.Gln205His, NP_001005502.1:p.Gln205His

Select item 14804219192.

rs1480421919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:68870390 (GRCh38)
12:69264170 (GRCh37)
Canonical SPDI:: NC_000012.12:68870389:A:T
Gene:: CPM (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.68870390A>T, NC_000012.11:g.69264170A>T, NM_001874.5:c.441T>A, NM_001874.4:c.441T>A, NM_198320.5:c.441T>A, NM_198320.4:c.441T>A, NM_198320.3:c.441T>A, XR_001748580.3:n.506T>A, XR_001748580.2:n.465T>A, XR_001748580.1:n.465T>A, XR_001748578.3:n.474T>A, XR_001748578.2:n.474T>A, XR_001748578.1:n.474T>A, XR_001748579.3:n.484T>A, XR_001748579.2:n.487T>A, XR_001748579.1:n.487T>A, XR_001748577.3:n.474T>A, XR_001748577.2:n.474T>A, XR_001748577.1:n.474T>A, NM_001005502.2:c.441T>A, XR_007063050.1:n.346T>A, NP_001865.1:p.Tyr147Ter, NP_938079.1:p.Tyr147Ter, NP_001005502.1:p.Tyr147Ter

Select item 14786192653.

rs1478619265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:68858940 (GRCh38)
12:69252720 (GRCh37)
Canonical SPDI:: NC_000012.12:68858939:C:T
Gene:: CPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68858940C>T, NC_000012.11:g.69252720C>T, NM_001874.5:c.1072G>A, NM_001874.4:c.1072G>A, NM_198320.5:c.1072G>A, NM_198320.4:c.1072G>A, NM_198320.3:c.1072G>A, XR_001748580.3:n.1137G>A, XR_001748580.2:n.1096G>A, XR_001748580.1:n.1096G>A, XR_001748578.3:n.1105G>A, XR_001748578.2:n.1105G>A, XR_001748578.1:n.1105G>A, XR_001748579.3:n.1115G>A, XR_001748579.2:n.1118G>A, XR_001748579.1:n.1118G>A, XR_001748577.3:n.1105G>A, XR_001748577.2:n.1105G>A, XR_001748577.1:n.1105G>A, NM_001005502.2:c.1072G>A, XR_007063050.1:n.977G>A, XR_007063051.1:n.792G>A, NP_001865.1:p.Gly358Arg, NP_938079.1:p.Gly358Arg, NP_001005502.1:p.Gly358Arg

Select item 14738172984.

rs1473817298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:68871905 (GRCh38)
12:69265685 (GRCh37)
Canonical SPDI:: NC_000012.12:68871904:C:T
Gene:: CPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.68871905C>T, NC_000012.11:g.69265685C>T, NM_001874.5:c.310G>A, NM_001874.4:c.310G>A, NM_198320.5:c.310G>A, NM_198320.4:c.310G>A, NM_198320.3:c.310G>A, XR_001748580.3:n.375G>A, XR_001748580.2:n.334G>A, XR_001748580.1:n.334G>A, XR_001748578.3:n.343G>A, XR_001748578.2:n.343G>A, XR_001748578.1:n.343G>A, XR_001748579.3:n.353G>A, XR_001748579.2:n.356G>A, XR_001748579.1:n.356G>A, XR_001748577.3:n.343G>A, XR_001748577.2:n.343G>A, XR_001748577.1:n.343G>A, NM_001005502.2:c.310G>A, XR_007063050.1:n.215G>A, XR_007063051.1:n.215G>A, NP_001865.1:p.Asp104Asn, NP_938079.1:p.Asp104Asn, NP_001005502.1:p.Asp104Asn

Select item 14717939645.

rs1471793964 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:68856583 (GRCh38)
12:69250363 (GRCh37)
Canonical SPDI:: NC_000012.12:68856582:A:G
Gene:: CPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.0005/1 (Korea1K)
HGVS:: NC_000012.12:g.68856583A>G, NC_000012.11:g.69250363A>G, NM_001874.5:c.1186T>C, NM_001874.4:c.1186T>C, NM_198320.5:c.1186T>C, NM_198320.4:c.1186T>C, NM_198320.3:c.1186T>C, XR_001748580.3:n.1251T>C, XR_001748580.2:n.1210T>C, XR_001748580.1:n.1210T>C, XR_001748578.3:n.1219T>C, XR_001748578.2:n.1219T>C, XR_001748578.1:n.1219T>C, XR_001748579.3:n.1229T>C, XR_001748579.2:n.1232T>C, XR_001748579.1:n.1232T>C, XR_001748577.3:n.1219T>C, XR_001748577.2:n.1219T>C, XR_001748577.1:n.1219T>C, NM_001005502.2:c.1186T>C, XR_007063050.1:n.1091T>C, XR_007063051.1:n.906T>C, NP_001865.1:p.Phe396Leu, NP_938079.1:p.Phe396Leu, NP_001005502.1:p.Phe396Leu

Select item 14660307526.

rs1466030752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:68866931 (GRCh38)
12:69260711 (GRCh37)
Canonical SPDI:: NC_000012.12:68866930:G:A,NC_000012.12:68866930:G:C
Gene:: CPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68866931G>A, NC_000012.12:g.68866931G>C, NC_000012.11:g.69260711G>A, NC_000012.11:g.69260711G>C, NM_001874.5:c.905C>T, NM_001874.5:c.905C>G, NM_001874.4:c.905C>T, NM_001874.4:c.905C>G, NM_198320.5:c.905C>T, NM_198320.5:c.905C>G, NM_198320.4:c.905C>T, NM_198320.4:c.905C>G, NM_198320.3:c.905C>T, NM_198320.3:c.905C>G, XR_001748580.3:n.970C>T, XR_001748580.3:n.970C>G, XR_001748580.2:n.929C>T, XR_001748580.2:n.929C>G, XR_001748580.1:n.929C>T, XR_001748580.1:n.929C>G, XR_001748578.3:n.938C>T, XR_001748578.3:n.938C>G, XR_001748578.2:n.938C>T, XR_001748578.2:n.938C>G, XR_001748578.1:n.938C>T, XR_001748578.1:n.938C>G, XR_001748579.3:n.948C>T, XR_001748579.3:n.948C>G, XR_001748579.2:n.951C>T, XR_001748579.2:n.951C>G, XR_001748579.1:n.951C>T, XR_001748579.1:n.951C>G, XR_001748577.3:n.938C>T, XR_001748577.3:n.938C>G, XR_001748577.2:n.938C>T, XR_001748577.2:n.938C>G, XR_001748577.1:n.938C>T, XR_001748577.1:n.938C>G, NM_001005502.2:c.905C>T, NM_001005502.2:c.905C>G, XR_007063050.1:n.810C>T, XR_007063050.1:n.810C>G, XR_007063051.1:n.625C>T, XR_007063051.1:n.625C>G, NP_001865.1:p.Ala302Val, NP_001865.1:p.Ala302Gly, NP_938079.1:p.Ala302Val, NP_938079.1:p.Ala302Gly, NP_001005502.1:p.Ala302Val, NP_001005502.1:p.Ala302Gly

Select item 14596535427.

rs1459653542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:68866905 (GRCh38)
12:69260685 (GRCh37)
Canonical SPDI:: NC_000012.12:68866904:C:A
Gene:: CPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68866905C>A, NC_000012.11:g.69260685C>A, NM_001874.5:c.931G>T, NM_001874.4:c.931G>T, NM_198320.5:c.931G>T, NM_198320.4:c.931G>T, NM_198320.3:c.931G>T, XR_001748580.3:n.996G>T, XR_001748580.2:n.955G>T, XR_001748580.1:n.955G>T, XR_001748578.3:n.964G>T, XR_001748578.2:n.964G>T, XR_001748578.1:n.964G>T, XR_001748579.3:n.974G>T, XR_001748579.2:n.977G>T, XR_001748579.1:n.977G>T, XR_001748577.3:n.964G>T, XR_001748577.2:n.964G>T, XR_001748577.1:n.964G>T, NM_001005502.2:c.931G>T, XR_007063050.1:n.836G>T, XR_007063051.1:n.651G>T, NP_001865.1:p.Val311Leu, NP_938079.1:p.Val311Leu, NP_001005502.1:p.Val311Leu

Select item 14589846708.

rs1458984670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:68856591 (GRCh38)
12:69250371 (GRCh37)
Canonical SPDI:: NC_000012.12:68856590:A:G
Gene:: CPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.68856591A>G, NC_000012.11:g.69250371A>G, NM_001874.5:c.1178T>C, NM_001874.4:c.1178T>C, NM_198320.5:c.1178T>C, NM_198320.4:c.1178T>C, NM_198320.3:c.1178T>C, XR_001748580.3:n.1243T>C, XR_001748580.2:n.1202T>C, XR_001748580.1:n.1202T>C, XR_001748578.3:n.1211T>C, XR_001748578.2:n.1211T>C, XR_001748578.1:n.1211T>C, XR_001748579.3:n.1221T>C, XR_001748579.2:n.1224T>C, XR_001748579.1:n.1224T>C, XR_001748577.3:n.1211T>C, XR_001748577.2:n.1211T>C, XR_001748577.1:n.1211T>C, NM_001005502.2:c.1178T>C, XR_007063050.1:n.1083T>C, XR_007063051.1:n.898T>C, NP_001865.1:p.Leu393Pro, NP_938079.1:p.Leu393Pro, NP_001005502.1:p.Leu393Pro

Select item 14540835239.

rs1454083523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:68871793 (GRCh38)
12:69265573 (GRCh37)
Canonical SPDI:: NC_000012.12:68871792:C:G
Gene:: CPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68871793C>G, NC_000012.11:g.69265573C>G, NM_001874.5:c.422G>C, NM_001874.4:c.422G>C, NM_198320.5:c.422G>C, NM_198320.4:c.422G>C, NM_198320.3:c.422G>C, XR_001748580.3:n.487G>C, XR_001748580.2:n.446G>C, XR_001748580.1:n.446G>C, XR_001748578.3:n.455G>C, XR_001748578.2:n.455G>C, XR_001748578.1:n.455G>C, XR_001748579.3:n.465G>C, XR_001748579.2:n.468G>C, XR_001748579.1:n.468G>C, XR_001748577.3:n.455G>C, XR_001748577.2:n.455G>C, XR_001748577.1:n.455G>C, NM_001005502.2:c.422G>C, XR_007063050.1:n.327G>C, XR_007063051.1:n.327G>C, NP_001865.1:p.Ser141Thr, NP_938079.1:p.Ser141Thr, NP_001005502.1:p.Ser141Thr

Select item 145209206810.

rs1452092068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:68932799 (GRCh38)
12:69326579 (GRCh37)
Canonical SPDI:: NC_000012.12:68932798:A:C
Gene:: CPM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.001/3 (KOREAN)
HGVS:: NC_000012.12:g.68932799A>C, NC_000012.11:g.69326579A>C, NM_001874.5:c.39T>G, NM_001874.4:c.39T>G, NM_198320.5:c.39T>G, NM_198320.4:c.39T>G, NM_198320.3:c.39T>G, XR_001748580.3:n.104T>G, XR_001748580.2:n.63T>G, XR_001748580.1:n.63T>G, XR_001748578.3:n.72T>G, XR_001748578.2:n.72T>G, XR_001748578.1:n.72T>G, XR_001748579.3:n.82T>G, XR_001748579.2:n.85T>G, XR_001748579.1:n.85T>G, XR_001748577.3:n.72T>G, XR_001748577.2:n.72T>G, XR_001748577.1:n.72T>G, NM_001005502.2:c.39T>G, XR_007063050.1:n.42T>G, XR_007063051.1:n.42T>G

Select item 145141865211.

rs1451418652 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 12:68856466 (GRCh38)
12:69250246 (GRCh37)
Canonical SPDI:: NC_000012.12:68856465:C:
Gene:: CPM (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68856466del, NC_000012.11:g.69250246del, NM_001874.5:c.1303del, NM_001874.4:c.1303del, NM_198320.5:c.1303del, NM_198320.4:c.1303del, NM_198320.3:c.1303del, XR_001748580.3:n.1368del, XR_001748580.2:n.1327del, XR_001748580.1:n.1327del, XR_001748578.3:n.1336del, XR_001748578.2:n.1336del, XR_001748578.1:n.1336del, XR_001748579.3:n.1346del, XR_001748579.2:n.1349del, XR_001748579.1:n.1349del, XR_001748577.3:n.1336del, XR_001748577.2:n.1336del, XR_001748577.1:n.1336del, NM_001005502.2:c.1303del, XR_007063050.1:n.1208del, XR_007063051.1:n.1023del, NP_001865.1:p.Leu434_Val435insTer, NP_938079.1:p.Leu434_Val435insTer, NP_001005502.1:p.Leu434_Val435insTer

Select item 144928032112.

rs1449280321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:68870260 (GRCh38)
12:69264040 (GRCh37)
Canonical SPDI:: NC_000012.12:68870259:C:A,NC_000012.12:68870259:C:T
Gene:: CPM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.68870260C>A, NC_000012.12:g.68870260C>T, NC_000012.11:g.69264040C>A, NC_000012.11:g.69264040C>T, NM_001874.5:c.571G>T, NM_001874.5:c.571G>A, NM_001874.4:c.571G>T, NM_001874.4:c.571G>A, NM_198320.5:c.571G>T, NM_198320.5:c.571G>A, NM_198320.4:c.571G>T, NM_198320.4:c.571G>A, NM_198320.3:c.571G>T, NM_198320.3:c.571G>A, XR_001748580.3:n.636G>T, XR_001748580.3:n.636G>A, XR_001748580.2:n.595G>T, XR_001748580.2:n.595G>A, XR_001748580.1:n.595G>T, XR_001748580.1:n.595G>A, XR_001748578.3:n.604G>T, XR_001748578.3:n.604G>A, XR_001748578.2:n.604G>T, XR_001748578.2:n.604G>A, XR_001748578.1:n.604G>T, XR_001748578.1:n.604G>A, XR_001748579.3:n.614G>T, XR_001748579.3:n.614G>A, XR_001748579.2:n.617G>T, XR_001748579.2:n.617G>A, XR_001748579.1:n.617G>T, XR_001748579.1:n.617G>A, XR_001748577.3:n.604G>T, XR_001748577.3:n.604G>A, XR_001748577.2:n.604G>T, XR_001748577.2:n.604G>A, XR_001748577.1:n.604G>T, XR_001748577.1:n.604G>A, NM_001005502.2:c.571G>T, NM_001005502.2:c.571G>A, XR_007063050.1:n.476G>T, XR_007063050.1:n.476G>A, NP_001865.1:p.Gly191Cys, NP_001865.1:p.Gly191Ser, NP_938079.1:p.Gly191Cys, NP_938079.1:p.Gly191Ser, NP_001005502.1:p.Gly191Cys, NP_001005502.1:p.Gly191Ser

Select item 144515209013.

rs1445152090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:68871950 (GRCh38)
12:69265730 (GRCh37)
Canonical SPDI:: NC_000012.12:68871949:C:A
Gene:: CPM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68871950C>A, NC_000012.11:g.69265730C>A, NM_001874.5:c.265G>T, NM_001874.4:c.265G>T, NM_198320.5:c.265G>T, NM_198320.4:c.265G>T, NM_198320.3:c.265G>T, XR_001748580.3:n.330G>T, XR_001748580.2:n.289G>T, XR_001748580.1:n.289G>T, XR_001748578.3:n.298G>T, XR_001748578.2:n.298G>T, XR_001748578.1:n.298G>T, XR_001748579.3:n.308G>T, XR_001748579.2:n.311G>T, XR_001748579.1:n.311G>T, XR_001748577.3:n.298G>T, XR_001748577.2:n.298G>T, XR_001748577.1:n.298G>T, NM_001005502.2:c.265G>T, XR_007063050.1:n.170G>T, XR_007063051.1:n.170G>T, NP_001865.1:p.Gly89Trp, NP_938079.1:p.Gly89Trp, NP_001005502.1:p.Gly89Trp

Select item 144164680614.

rs1441646806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:68856663 (GRCh38)
12:69250443 (GRCh37)
Canonical SPDI:: NC_000012.12:68856662:T:C,NC_000012.12:68856662:T:G
Gene:: CPM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68856663T>C, NC_000012.12:g.68856663T>G, NC_000012.11:g.69250443T>C, NC_000012.11:g.69250443T>G, NM_001874.5:c.1106A>G, NM_001874.5:c.1106A>C, NM_001874.4:c.1106A>G, NM_001874.4:c.1106A>C, NM_198320.5:c.1106A>G, NM_198320.5:c.1106A>C, NM_198320.4:c.1106A>G, NM_198320.4:c.1106A>C, NM_198320.3:c.1106A>G, NM_198320.3:c.1106A>C, XR_001748580.3:n.1171A>G, XR_001748580.3:n.1171A>C, XR_001748580.2:n.1130A>G, XR_001748580.2:n.1130A>C, XR_001748580.1:n.1130A>G, XR_001748580.1:n.1130A>C, XR_001748578.3:n.1139A>G, XR_001748578.3:n.1139A>C, XR_001748578.2:n.1139A>G, XR_001748578.2:n.1139A>C, XR_001748578.1:n.1139A>G, XR_001748578.1:n.1139A>C, XR_001748579.3:n.1149A>G, XR_001748579.3:n.1149A>C, XR_001748579.2:n.1152A>G, XR_001748579.2:n.1152A>C, XR_001748579.1:n.1152A>G, XR_001748579.1:n.1152A>C, XR_001748577.3:n.1139A>G, XR_001748577.3:n.1139A>C, XR_001748577.2:n.1139A>G, XR_001748577.2:n.1139A>C, XR_001748577.1:n.1139A>G, XR_001748577.1:n.1139A>C, NM_001005502.2:c.1106A>G, NM_001005502.2:c.1106A>C, XR_007063050.1:n.1011A>G, XR_007063050.1:n.1011A>C, XR_007063051.1:n.826A>G, XR_007063051.1:n.826A>C, NP_001865.1:p.His369Arg, NP_001865.1:p.His369Pro, NP_938079.1:p.His369Arg, NP_938079.1:p.His369Pro, NP_001005502.1:p.His369Arg, NP_001005502.1:p.His369Pro

Select item 143696062215.

rs1436960622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:68859009 (GRCh38)
12:69252789 (GRCh37)
Canonical SPDI:: NC_000012.12:68859008:G:T
Gene:: CPM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68859009G>T, NC_000012.11:g.69252789G>T, NM_001874.5:c.1003C>A, NM_001874.4:c.1003C>A, NM_198320.5:c.1003C>A, NM_198320.4:c.1003C>A, NM_198320.3:c.1003C>A, XR_001748580.3:n.1068C>A, XR_001748580.2:n.1027C>A, XR_001748580.1:n.1027C>A, XR_001748578.3:n.1036C>A, XR_001748578.2:n.1036C>A, XR_001748578.1:n.1036C>A, XR_001748579.3:n.1046C>A, XR_001748579.2:n.1049C>A, XR_001748579.1:n.1049C>A, XR_001748577.3:n.1036C>A, XR_001748577.2:n.1036C>A, XR_001748577.1:n.1036C>A, NM_001005502.2:c.1003C>A, XR_007063050.1:n.908C>A, XR_007063051.1:n.723C>A, NP_001865.1:p.Gln335Lys, NP_938079.1:p.Gln335Lys, NP_001005502.1:p.Gln335Lys

Select item 143624428516.

rs1436244285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:68871894 (GRCh38)
12:69265674 (GRCh37)
Canonical SPDI:: NC_000012.12:68871893:G:T
Gene:: CPM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68871894G>T, NC_000012.11:g.69265674G>T, NM_001874.5:c.321C>A, NM_001874.4:c.321C>A, NM_198320.5:c.321C>A, NM_198320.4:c.321C>A, NM_198320.3:c.321C>A, XR_001748580.3:n.386C>A, XR_001748580.2:n.345C>A, XR_001748580.1:n.345C>A, XR_001748578.3:n.354C>A, XR_001748578.2:n.354C>A, XR_001748578.1:n.354C>A, XR_001748579.3:n.364C>A, XR_001748579.2:n.367C>A, XR_001748579.1:n.367C>A, XR_001748577.3:n.354C>A, XR_001748577.2:n.354C>A, XR_001748577.1:n.354C>A, NM_001005502.2:c.321C>A, XR_007063050.1:n.226C>A, XR_007063051.1:n.226C>A, NP_001865.1:p.Asp107Glu, NP_938079.1:p.Asp107Glu, NP_001005502.1:p.Asp107Glu

Select item 142626563617.

rs1426265636 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:68870382 (GRCh38)
12:69264162 (GRCh37)
Canonical SPDI:: NC_000012.12:68870381:T:C
Gene:: CPM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_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_000012.12:g.68870382T>C, NC_000012.11:g.69264162T>C, NM_001874.5:c.449A>G, NM_001874.4:c.449A>G, NM_198320.5:c.449A>G, NM_198320.4:c.449A>G, NM_198320.3:c.449A>G, XR_001748580.3:n.514A>G, XR_001748580.2:n.473A>G, XR_001748580.1:n.473A>G, XR_001748578.3:n.482A>G, XR_001748578.2:n.482A>G, XR_001748578.1:n.482A>G, XR_001748579.3:n.492A>G, XR_001748579.2:n.495A>G, XR_001748579.1:n.495A>G, XR_001748577.3:n.482A>G, XR_001748577.2:n.482A>G, XR_001748577.1:n.482A>G, NM_001005502.2:c.449A>G, XR_007063050.1:n.354A>G, NP_001865.1:p.Tyr150Cys, NP_938079.1:p.Tyr150Cys, NP_001005502.1:p.Tyr150Cys

Select item 142489745818.

rs1424897458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:68870253 (GRCh38)
12:69264033 (GRCh37)
Canonical SPDI:: NC_000012.12:68870252:G:A,NC_000012.12:68870252:G:T
Gene:: CPM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.68870253G>A, NC_000012.12:g.68870253G>T, NC_000012.11:g.69264033G>A, NC_000012.11:g.69264033G>T, NM_001874.5:c.578C>T, NM_001874.5:c.578C>A, NM_001874.4:c.578C>T, NM_001874.4:c.578C>A, NM_198320.5:c.578C>T, NM_198320.5:c.578C>A, NM_198320.4:c.578C>T, NM_198320.4:c.578C>A, NM_198320.3:c.578C>T, NM_198320.3:c.578C>A, XR_001748580.3:n.643C>T, XR_001748580.3:n.643C>A, XR_001748580.2:n.602C>T, XR_001748580.2:n.602C>A, XR_001748580.1:n.602C>T, XR_001748580.1:n.602C>A, XR_001748578.3:n.611C>T, XR_001748578.3:n.611C>A, XR_001748578.2:n.611C>T, XR_001748578.2:n.611C>A, XR_001748578.1:n.611C>T, XR_001748578.1:n.611C>A, XR_001748579.3:n.621C>T, XR_001748579.3:n.621C>A, XR_001748579.2:n.624C>T, XR_001748579.2:n.624C>A, XR_001748579.1:n.624C>T, XR_001748579.1:n.624C>A, XR_001748577.3:n.611C>T, XR_001748577.3:n.611C>A, XR_001748577.2:n.611C>T, XR_001748577.2:n.611C>A, XR_001748577.1:n.611C>T, XR_001748577.1:n.611C>A, NM_001005502.2:c.578C>T, NM_001005502.2:c.578C>A, XR_007063050.1:n.483C>T, XR_007063050.1:n.483C>A, NP_001865.1:p.Ala193Val, NP_001865.1:p.Ala193Asp, NP_938079.1:p.Ala193Val, NP_938079.1:p.Ala193Asp, NP_001005502.1:p.Ala193Val, NP_001005502.1:p.Ala193Asp

Select item 142388128319.

rs1423881283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:68932754 (GRCh38)
12:69326534 (GRCh37)
Canonical SPDI:: NC_000012.12:68932753:C:T
Gene:: CPM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68932754C>T, NC_000012.11:g.69326534C>T, NM_001874.5:c.84G>A, NM_001874.4:c.84G>A, NM_198320.5:c.84G>A, NM_198320.4:c.84G>A, NM_198320.3:c.84G>A, XR_001748580.3:n.149G>A, XR_001748580.2:n.108G>A, XR_001748580.1:n.108G>A, XR_001748578.3:n.117G>A, XR_001748578.2:n.117G>A, XR_001748578.1:n.117G>A, XR_001748579.3:n.127G>A, XR_001748579.2:n.130G>A, XR_001748579.1:n.130G>A, XR_001748577.3:n.117G>A, XR_001748577.2:n.117G>A, XR_001748577.1:n.117G>A, NM_001005502.2:c.84G>A, XR_007063050.1:n.87G>A, XR_007063051.1:n.87G>A, NP_001865.1:p.Met28Ile, NP_938079.1:p.Met28Ile, NP_001005502.1:p.Met28Ile

Select item 142173931320.

rs1421739313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:68871802 (GRCh38)
12:69265582 (GRCh37)
Canonical SPDI:: NC_000012.12:68871801:C:T
Gene:: CPM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68871802C>T, NC_000012.11:g.69265582C>T, NM_001874.5:c.413G>A, NM_001874.4:c.413G>A, NM_198320.5:c.413G>A, NM_198320.4:c.413G>A, NM_198320.3:c.413G>A, XR_001748580.3:n.478G>A, XR_001748580.2:n.437G>A, XR_001748580.1:n.437G>A, XR_001748578.3:n.446G>A, XR_001748578.2:n.446G>A, XR_001748578.1:n.446G>A, XR_001748579.3:n.456G>A, XR_001748579.2:n.459G>A, XR_001748579.1:n.459G>A, XR_001748577.3:n.446G>A, XR_001748577.2:n.446G>A, XR_001748577.1:n.446G>A, NM_001005502.2:c.413G>A, XR_007063050.1:n.318G>A, XR_007063051.1:n.318G>A, NP_001865.1:p.Cys138Tyr, NP_938079.1:p.Cys138Tyr, NP_001005502.1:p.Cys138Tyr

dbSNP

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dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 337

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