Linked Data
ClinVar Variation Id:
157596
ClinVar RCV Id:
RCV000144930
RCV000144931
RCV000178871
RCV000331310
RCV000382273
RCV000421273
RCV001081785
dbSNP Id:
rs73969684
ExAC:
2:167162344 C / T
gnomAD v2:
2-167162344-C-T
gnomAD v3:
2-166305834-C-T
gnomAD v4:
2-166305834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166305834C>T , CM000664.2:g.166305834C>T | GRCh38 |
| NC_000002.11:g.167162344C>T , CM000664.1:g.167162344C>T | GRCh37 |
| NC_000002.10:g.166870590C>T | NCBI36 |
| NG_012798.1:g.75154G>A , LRG_369:g.75154G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303354.11:c.554G>A | ENSP00000304748.7:p.Arg185His | |
| ENST00000409435.6:c.554G>A | ENSP00000386330.2:p.Arg185His | |
| ENST00000452182.2:c.554G>A | ENSP00000393141.2:p.Arg185His | |
| ENST00000454569.6:c.554G>A | ENSP00000413212.2:p.Arg185His | |
| ENST00000472119.2:n.909G>A | ||
| ENST00000642356.2:c.554G>A MANE Select | ENSP00000495601.1:p.Arg185His | |
| ENST00000644316.1:c.554G>A | ENSP00000493939.1:p.Arg185His | |
| ENST00000645907.1:c.554G>A | ENSP00000495983.1:p.Arg185His | |
| ENST00000303354.10:c.554G>A | ENSP00000304748.7:p.Arg185His | |
| ENST00000409435.5:c.554G>A | ENSP00000386330.1:p.Arg185His | |
| ENST00000409672.5:c.554G>A | ENSP00000386306.1:p.Arg185His | |
| ENST00000452182.1:c.149G>A | ENSP00000393141.1:p.Arg50His | |
| ENST00000454569.5:c.149G>A | ENSP00000413212.1:p.Arg50His | |
| ENST00000472119.1:n.87G>A | ||
| NM_002977.3:c.554G>A , LRG_369t1:c.554G>A | NP_002968.1:p.Arg185His | |
| XM_005246757.1:c.554G>A | XP_005246814.1:p.Arg185His | |
| XM_011511616.1:c.554G>A | XP_011509918.1:p.Arg185His | |
| XM_011511617.1:c.554G>A | XP_011509919.1:p.Arg185His | |
| XM_011511618.1:c.554G>A | XP_011509920.1:p.Arg185His | |
| XM_011511619.1:c.554G>A | XP_011509921.1:p.Arg185His | |
| NM_001365536.1:c.554G>A MANE Select | NP_001352465.1:p.Arg185His | |
| XM_011511616.3:c.554G>A | XP_011509918.1:p.Arg185His | |
| XM_011511617.2:c.554G>A | XP_011509919.1:p.Arg185His | |
| XM_011511618.2:c.554G>A | XP_011509920.1:p.Arg185His | |
| XM_011511619.2:c.554G>A | XP_011509921.1:p.Arg185His | |
| XM_017004668.1:c.167G>A | XP_016860157.1:p.Arg56His | |
| XM_017004669.1:c.-99G>A | XP_016860158.1:n.-99G>A | |
| XR_001738886.1:n.868G>A |