Linked Data
ClinVar Variation Id:
2947873
ClinVar RCV Id:
RCV003804503
dbSNP Id:
rs1464157509
gnomAD v2:
3-70014016-C-A
gnomAD v3:
3-69964865-C-A
gnomAD v4:
3-69964865-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69964865C>A , CM000665.2:g.69964865C>A | GRCh38 |
| NC_000003.11:g.70014016C>A , CM000665.1:g.70014016C>A | GRCh37 |
| NC_000003.10:g.70096706C>A | NCBI36 |
| NG_011631.1:g.230384C>A , LRG_776:g.230384C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1132C>A | ENSP00000324443.5:p.Arg378= | |
| ENST00000687384.1:c.1129C>A | ENSP00000510225.1:p.Arg377= | |
| ENST00000689390.1:n.1354C>A | ||
| ENST00000693031.1:c.1105C>A | ENSP00000509845.1:p.Arg369= | |
| ENST00000693549.1:c.1114-49C>A | ENSP00000509358.1:n.1114-49C>A | |
| ENST00000314589.10:c.1132C>A | ENSP00000324443.5:p.Arg378= | |
| ENST00000352241.9:c.1198C>A MANE Select | ENSP00000295600.8:p.Arg400= | |
| ENST00000394351.9:c.877C>A MANE Plus Clinical | ENSP00000377880.3:p.Arg293= | |
| ENST00000448226.9:c.1177C>A | ENSP00000391803.3:p.Arg393= | |
| ENST00000642352.1:c.1180C>A | ENSP00000494105.1:p.Arg394= | |
| ENST00000314557.10:c.859C>A | ENSP00000324246.6:p.Arg287= | |
| ENST00000314589.9:c.1132C>A | ENSP00000324443.5:p.Arg378= | |
| ENST00000328528.10:c.1177C>A | ENSP00000327867.6:p.Arg393= | |
| ENST00000352241.8:c.1180C>A | ENSP00000295600.7:p.Arg394= | |
| ENST00000394351.7:c.877C>A | ENSP00000377880.3:p.Arg293= | |
| ENST00000448226.6:c.1198C>A | ENSP00000391803.2:p.Arg400= | |
| ENST00000472437.5:c.1024C>A | ENSP00000418845.1:p.Arg342= | |
| ENST00000478490.5:c.*524C>A | ENSP00000433487.1:n.*524C>A | |
| ENST00000531774.1:c.691C>A | ENSP00000435909.1:p.Arg231= | |
| NM_000248.3:c.877C>A , LRG_776t1:c.877C>A | NP_000239.1:p.Arg293= | |
| NM_001184967.1:c.1024C>A | NP_001171896.1:p.Arg342= | |
| NM_006722.2:c.1177C>A | NP_006713.1:p.Arg393= | |
| NM_198158.2:c.859C>A | NP_937801.1:p.Arg287= | |
| NM_198159.2:c.1180C>A | NP_937802.1:p.Arg394= | |
| NM_198177.2:c.1132C>A | NP_937820.1:p.Arg378= | |
| NM_198178.2:c.691C>A | NP_937821.2:p.Arg231= | |
| XM_005264754.1:c.1198C>A | XP_005264811.1:p.Arg400= | |
| XM_005264755.2:c.1150C>A | XP_005264812.1:p.Arg384= | |
| XM_006713164.2:c.1042C>A | XP_006713227.1:p.Arg348= | |
| XM_011533722.1:c.1195C>A | XP_011532024.1:p.Arg399= | |
| XM_011533723.1:c.1147C>A | XP_011532025.1:p.Arg383= | |
| XM_011533724.1:c.1042C>A | XP_011532026.1:p.Arg348= | |
| XM_011533725.1:c.1030C>A | XP_011532027.1:p.Arg344= | |
| XM_011533726.1:c.1012C>A | XP_011532028.1:p.Arg338= | |
| NM_001354604.1:c.1198C>A | NP_001341533.1:p.Arg400= | |
| NM_001354605.1:c.1195C>A | NP_001341534.1:p.Arg399= | |
| NM_001354606.1:c.1177C>A | NP_001341535.1:p.Arg393= | |
| NM_001354607.1:c.1129C>A | NP_001341536.1:p.Arg377= | |
| NM_001354608.1:c.1024C>A | NP_001341537.1:p.Arg342= | |
| NM_001184967.2:c.1024C>A | NP_001171896.1:p.Arg342= | |
| NM_001354604.2:c.1198C>A MANE Select | NP_001341533.1:p.Arg400= | |
| NM_001354605.2:c.1195C>A | NP_001341534.1:p.Arg399= | |
| NM_001354606.2:c.1177C>A | NP_001341535.1:p.Arg393= | |
| NM_001354607.2:c.1129C>A | NP_001341536.1:p.Arg377= | |
| NM_001354608.2:c.1024C>A | NP_001341537.1:p.Arg342= | |
| NM_198158.3:c.859C>A | NP_937801.1:p.Arg287= | |
| NM_198159.3:c.1180C>A | NP_937802.1:p.Arg394= | |
| NM_198177.3:c.1132C>A | NP_937820.1:p.Arg378= | |
| NM_198178.3:c.691C>A | NP_937821.2:p.Arg231= | |
| NM_000248.4:c.877C>A MANE Plus Clinical | NP_000239.1:p.Arg293= | |
| NM_006722.3:c.1177C>A | NP_006713.1:p.Arg393= |