Linked Data
dbSNP Id:
rs12440118
ExAC:
15:42744094 A / G
gnomAD v2:
15-42744094-A-G
gnomAD v3:
15-42451896-A-G
gnomAD v4:
15-42451896-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42451896A>G , CM000677.2:g.42451896A>G | GRCh38 |
| NC_000015.9:g.42744094A>G , CM000677.1:g.42744094A>G | GRCh37 |
| NC_000015.8:g.40531386A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000564754.7:c.376T>C MANE Select | ENSP00000456845.2:p.Trp126Arg | |
| ENST00000263805.8:c.307T>C | ENSP00000263805.4:p.Trp103Arg | |
| ENST00000564754.5:c.376T>C | ENSP00000456845.1:p.Trp126Arg | |
| ENST00000565380.5:c.117-3191T>C | ENSP00000455674.1:n.117-3191T>C | |
| ENST00000565611.5:c.-13-3191T>C | ENSP00000457637.1:n.-13-3191T>C | |
| ENST00000565948.1:c.-345T>C | ENSP00000455049.1:n.-345T>C | |
| ENST00000567041.1:c.376T>C | ENSP00000454882.1:p.Trp126Arg | |
| NM_001284306.1:c.-13-3191T>C | NP_001271235.1:n.-13-3191T>C | |
| NM_001284307.1:c.117-3191T>C | NP_001271236.1:n.117-3191T>C | |
| NM_022473.2:c.307T>C | NP_071918.1:p.Trp103Arg | |
| XM_005254591.1:c.376T>C | XP_005254648.1:p.Trp126Arg | |
| XM_005254592.1:c.376T>C | XP_005254649.1:p.Trp126Arg | |
| NM_001284307.2:c.117-3191T>C | NP_001271236.1:n.117-3191T>C | |
| NM_001366844.1:c.117-3191T>C | NP_001353773.1:n.117-3191T>C | |
| NM_001366845.1:c.376T>C | NP_001353774.1:p.Trp126Arg | |
| NM_001366846.1:c.376T>C | NP_001353775.1:p.Trp126Arg | |
| XM_017022483.1:c.175T>C | XP_016877972.1:p.Trp59Arg | |
| XM_017022484.2:c.-345T>C | XP_016877973.1:n.-345T>C | |
| NM_001284307.3:c.117-3191T>C | NP_001271236.1:n.117-3191T>C | |
| NM_001366844.2:c.117-3191T>C | NP_001353773.1:n.117-3191T>C | |
| NM_001366845.2:c.376T>C | NP_001353774.1:p.Trp126Arg | |
| NM_001366846.2:c.376T>C | NP_001353775.1:p.Trp126Arg | |
| NM_001284306.2:c.-13-3191T>C | NP_001271235.1:n.-13-3191T>C | |
| NM_001284307.4:c.117-3191T>C | NP_001271236.1:n.117-3191T>C | |
| NM_001366844.3:c.117-3191T>C | NP_001353773.1:n.117-3191T>C | |
| NM_001366845.3:c.376T>C MANE Select | NP_001353774.1:p.Trp126Arg | |
| NM_001366846.3:c.376T>C | NP_001353775.1:p.Trp126Arg | |
| NM_001381993.1:c.175T>C | NP_001368922.1:p.Trp59Arg | |
| NM_001381994.1:c.318-3191T>C | NP_001368923.1:n.318-3191T>C | |
| NM_001381995.1:c.117-3191T>C | NP_001368924.1:n.117-3191T>C | |
| NM_001381996.1:c.60-3191T>C | NP_001368925.1:n.60-3191T>C | |
| NM_001381997.1:c.117-3191T>C | NP_001368926.1:n.117-3191T>C | |
| NM_001381998.1:c.117-3191T>C | NP_001368927.1:n.117-3191T>C | |
| NM_022473.3:c.307T>C | NP_071918.1:p.Trp103Arg |