Linked Data
ClinVar Variation Id:
377449
ClinVar RCV Id:
RCV000417456
dbSNP Id:
rs1057520218
gnomAD v2:
3-123044174-G-A
gnomAD v4:
3-123325327-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123325327G>A , CM000665.2:g.123325327G>A | GRCh38 |
| NC_000003.11:g.123044174G>A , CM000665.1:g.123044174G>A | GRCh37 |
| NC_000003.10:g.124526864G>A | NCBI36 |
| NG_033882.1:g.128219C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000466617.6:c.760C>T | ENSP00000420082.2:p.Arg254Trp | |
| ENST00000470367.2:c.1048C>T | ENSP00000514541.1:p.Arg350Trp | |
| ENST00000483566.2:c.760C>T | ENSP00000420252.2:p.Arg254Trp | |
| ENST00000699714.1:c.760C>T | ENSP00000514539.1:p.Arg254Trp | |
| ENST00000699715.1:c.760C>T | ENSP00000514540.1:p.Arg254Trp | |
| ENST00000699716.1:c.760C>T | ENSP00000514542.1:p.Arg254Trp | |
| ENST00000699718.1:c.2083C>T | ENSP00000514543.1:p.Arg695Trp | |
| ENST00000699719.1:n.342C>T | ||
| ENST00000462833.6:c.2083C>T MANE Select | ENSP00000419361.1:p.Arg695Trp | |
| ENST00000309879.9:c.1033C>T | ENSP00000308685.5:p.Arg345Trp | |
| ENST00000462833.5:c.2083C>T | ENSP00000419361.1:p.Arg695Trp | |
| ENST00000466617.5:c.760C>T | ENSP00000420082.1:p.Arg254Trp | |
| ENST00000491190.5:c.982C>T | ENSP00000418537.1:p.Arg328Trp | |
| NM_001199642.1:c.1033C>T | NP_001186571.1:p.Arg345Trp | |
| NM_183357.2:c.2083C>T | NP_899200.1:p.Arg695Trp | |
| XM_005247077.2:c.2083C>T | XP_005247134.1:p.Arg695Trp | |
| XM_005247078.1:c.1033C>T | XP_005247135.1:p.Arg345Trp | |
| XM_006713483.1:c.982C>T | XP_006713546.1:p.Arg328Trp | |
| XM_006713484.1:c.760C>T | XP_006713547.1:p.Arg254Trp | |
| XM_011512358.1:c.2083C>T | XP_011510660.1:p.Arg695Trp | |
| XM_011512359.1:c.1084C>T | XP_011510661.1:p.Arg362Trp | |
| XM_011512360.1:c.994C>T | XP_011510662.1:p.Arg332Trp | |
| XM_011512361.1:c.760C>T | XP_011510663.1:p.Arg254Trp | |
| XM_005247077.4:c.2083C>T | XP_005247134.1:p.Arg695Trp | |
| XM_011512359.2:c.1084C>T | XP_011510661.1:p.Arg362Trp | |
| XM_011512360.3:c.994C>T | XP_011510662.1:p.Arg332Trp | |
| XM_017005638.1:c.985C>T | XP_016861127.1:p.Arg329Trp | |
| XM_017005639.1:c.985C>T | XP_016861128.1:p.Arg329Trp | |
| NM_001378259.1:c.2083C>T | NP_001365188.1:p.Arg695Trp | |
| NM_183357.3:c.2083C>T MANE Select | NP_899200.1:p.Arg695Trp |