Linked Data
ClinVar Variation Id:
333431
dbSNP Id:
rs369897442
ExAC:
2:202072863 C / A
gnomAD v2:
2-202072863-C-A
gnomAD v3:
2-201208140-C-A
gnomAD v4:
2-201208140-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201208140C>A , CM000664.2:g.201208140C>A | GRCh38 |
| NC_000002.11:g.202072863C>A , CM000664.1:g.202072863C>A | GRCh37 |
| NC_000002.10:g.201781108C>A | NCBI36 |
| NG_007265.1:g.30009C>A , LRG_33:g.30009C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313728.12:c.722-930C>A | ENSP00000314599.7:n.722-930C>A | |
| ENST00000346817.10:c.750C>A | ENSP00000237865.7:p.Ser250Arg | |
| ENST00000438843.6:c.*336C>A | ENSP00000401914.1:n.*336C>A | |
| ENST00000492363.6:c.787C>A | ENSP00000512459.1:p.Leu263Ile | |
| ENST00000696199.1:c.721+4374C>A | ENSP00000512481.1:n.721+4374C>A | |
| ENST00000286186.11:c.879C>A MANE Select | ENSP00000286186.6:p.Ser293Arg | |
| ENST00000272879.9:c.879C>A | ENSP00000272879.5:p.Ser293Arg | |
| ENST00000286186.10:c.879C>A | ENSP00000286186.6:p.Ser293Arg | |
| ENST00000313728.11:c.722-930C>A | ENSP00000314599.7:n.722-930C>A | |
| ENST00000346817.9:c.750C>A | ENSP00000237865.7:p.Ser250Arg | |
| ENST00000360132.7:c.787C>A | ENSP00000353250.3:p.Leu263Ile | |
| ENST00000438843.5:c.*336C>A | ENSP00000401914.1:n.*336C>A | |
| ENST00000448480.1:c.750C>A | ENSP00000396835.1:p.Ser250Arg | |
| ENST00000492363.5:n.787C>A | ||
| NM_001206524.1:c.722-930C>A | NP_001193453.1:n.722-930C>A | |
| NM_001206542.1:c.750C>A | NP_001193471.1:p.Ser250Arg | |
| NM_001230.4:c.750C>A | NP_001221.2:p.Ser250Arg | |
| NM_032974.4:c.879C>A | NP_116756.2:p.Ser293Arg | |
| NM_032976.3:c.787C>A | NP_116758.1:p.Leu263Ile | |
| NM_032977.3:c.879C>A , LRG_33t1:c.879C>A | NP_116759.2:p.Ser293Arg | |
| XM_005246907.2:c.876C>A | XP_005246964.1:p.Ser292Arg | |
| XM_006712796.2:c.129C>A | XP_006712859.1:p.Ser43Arg | |
| XM_011511990.1:c.784C>A | XP_011510292.1:p.Leu262Ile | |
| XR_923043.1:n.1083C>A | ||
| XR_923044.1:n.991C>A | ||
| XM_006712796.3:c.129C>A | XP_006712859.1:p.Ser43Arg | |
| XM_011511990.2:c.784C>A | XP_011510292.1:p.Leu262Ile | |
| XR_923043.2:n.1083C>A | ||
| XR_923044.2:n.991C>A | ||
| NM_001206524.2:c.722-930C>A | NP_001193453.1:n.722-930C>A | |
| NM_001206542.2:c.750C>A | NP_001193471.1:p.Ser250Arg | |
| NM_001230.5:c.750C>A | NP_001221.2:p.Ser250Arg | |
| NM_032974.5:c.879C>A | NP_116756.2:p.Ser293Arg | |
| NM_032977.4:c.879C>A MANE Select | NP_116759.2:p.Ser293Arg | |
| NM_032976.4:c.787C>A | NP_116758.1:p.Leu263Ile |