Linked Data
dbSNP Id:
rs558251112
ExAC:
12:121615192 T / G
gnomAD v2:
12-121615192-T-G
gnomAD v3:
12-121177389-T-G
gnomAD v4:
12-121177389-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121177389T>G , CM000674.2:g.121177389T>G | GRCh38 |
| NC_000012.11:g.121615192T>G , CM000674.1:g.121615192T>G | GRCh37 |
| NC_000012.10:g.120099575T>G | NCBI36 |
| NG_011471.2:g.49515T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1131T>G MANE Select | ENSP00000330696.6:p.Cys377Trp | |
| ENST00000261826.10:c.*584T>G | ENSP00000261826.6:n.*584T>G | |
| ENST00000328963.9:c.1131T>G | ENSP00000330696.6:p.Cys377Trp | |
| ENST00000535250.5:c.1215T>G | ENSP00000442572.2:n.1215T>G | |
| ENST00000535600.2:c.948T>G | ENSP00000442470.1:n.948T>G | |
| ENST00000537312.5:c.*902T>G | ENSP00000438586.1:n.*902T>G | |
| ENST00000538011.5:c.1270T>G | ENSP00000439247.1:n.1270T>G | |
| ENST00000539606.5:c.1354T>G | ENSP00000445325.1:n.1354T>G | |
| ENST00000539695.5:n.1300T>G | ||
| ENST00000541022.5:c.921T>G | ENSP00000441230.1:n.921T>G | |
| ENST00000541564.5:c.994T>G | ENSP00000443640.1:n.994T>G | |
| ENST00000541716.5:c.1142T>G | ENSP00000437729.1:n.1142T>G | |
| NM_002562.5:c.1131T>G | NP_002553.3:p.Cys377Trp | |
| NR_033948.1:n.1497T>G | ||
| NR_033949.1:n.1413T>G | ||
| NR_033950.1:n.1374T>G | ||
| NR_033951.1:n.1358T>G | ||
| NR_033952.1:n.1285T>G | ||
| NR_033953.1:n.1198T>G | ||
| NR_033954.1:n.1177T>G | ||
| NR_033955.1:n.1137T>G | ||
| NR_033956.1:n.1064T>G | ||
| XM_011538418.1:c.864T>G | XP_011536720.1:p.Cys288Trp | |
| XM_011538419.1:c.819T>G | XP_011536721.1:p.Cys273Trp | |
| XM_011538420.1:c.264T>G | XP_011536722.1:p.Cys88Trp | |
| XR_945459.1:n.190-14972A>C | ||
| XR_945460.1:n.299-14972A>C | ||
| XM_011538419.3:c.819T>G | XP_011536721.1:p.Cys273Trp | |
| XM_011538420.3:c.264T>G | XP_011536722.1:p.Cys88Trp | |
| XM_017019364.2:c.771T>G | XP_016874853.1:p.Cys257Trp | |
| XM_017019365.2:c.771T>G | XP_016874854.1:p.Cys257Trp | |
| XM_017019366.2:c.378T>G | XP_016874855.1:p.Cys126Trp | |
| XM_017019367.2:c.378T>G | XP_016874856.1:p.Cys126Trp | |
| XR_001749352.2:n.186+26109A>C | ||
| XR_001749353.2:n.304-14972A>C | ||
| XR_001749354.2:n.186+26109A>C | ||
| XR_945459.3:n.187-14972A>C | ||
| XR_945460.3:n.299-14972A>C | ||
| NM_002562.6:c.1131T>G MANE Select | NP_002553.3:p.Cys377Trp | |
| NR_033948.2:n.1449T>G | ||
| NR_033949.2:n.1365T>G | ||
| NR_033950.2:n.1326T>G | ||
| NR_033951.2:n.1310T>G | ||
| NR_033952.2:n.1237T>G | ||
| NR_033953.2:n.1141T>G | ||
| NR_033954.2:n.1129T>G | ||
| NR_033955.2:n.1089T>G | ||
| NR_033956.2:n.1016T>G |