Linked Data
dbSNP Id:
rs765981428
ExAC:
12:121615182 G / A
gnomAD v2:
12-121615182-G-A
gnomAD v4:
12-121177379-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121177379G>A , CM000674.2:g.121177379G>A | GRCh38 |
| NC_000012.11:g.121615182G>A , CM000674.1:g.121615182G>A | GRCh37 |
| NC_000012.10:g.120099565G>A | NCBI36 |
| NG_011471.2:g.49505G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1121G>A MANE Select | ENSP00000330696.6:p.Cys374Tyr | |
| ENST00000261826.10:c.*574G>A | ENSP00000261826.6:n.*574G>A | |
| ENST00000328963.9:c.1121G>A | ENSP00000330696.6:p.Cys374Tyr | |
| ENST00000535250.5:c.1205G>A | ENSP00000442572.2:n.1205G>A | |
| ENST00000535600.2:c.938G>A | ENSP00000442470.1:n.938G>A | |
| ENST00000537312.5:c.*892G>A | ENSP00000438586.1:n.*892G>A | |
| ENST00000538011.5:c.1260G>A | ENSP00000439247.1:n.1260G>A | |
| ENST00000539606.5:c.1344G>A | ENSP00000445325.1:n.1344G>A | |
| ENST00000539695.5:n.1290G>A | ||
| ENST00000541022.5:c.911G>A | ENSP00000441230.1:n.911G>A | |
| ENST00000541564.5:c.984G>A | ENSP00000443640.1:n.984G>A | |
| ENST00000541716.5:c.1132G>A | ENSP00000437729.1:n.1132G>A | |
| NM_002562.5:c.1121G>A | NP_002553.3:p.Cys374Tyr | |
| NR_033948.1:n.1487G>A | ||
| NR_033949.1:n.1403G>A | ||
| NR_033950.1:n.1364G>A | ||
| NR_033951.1:n.1348G>A | ||
| NR_033952.1:n.1275G>A | ||
| NR_033953.1:n.1188G>A | ||
| NR_033954.1:n.1167G>A | ||
| NR_033955.1:n.1127G>A | ||
| NR_033956.1:n.1054G>A | ||
| XM_011538418.1:c.854G>A | XP_011536720.1:p.Cys285Tyr | |
| XM_011538419.1:c.809G>A | XP_011536721.1:p.Cys270Tyr | |
| XM_011538420.1:c.254G>A | XP_011536722.1:p.Cys85Tyr | |
| XR_945459.1:n.190-14962C>T | ||
| XR_945460.1:n.299-14962C>T | ||
| XM_011538419.3:c.809G>A | XP_011536721.1:p.Cys270Tyr | |
| XM_011538420.3:c.254G>A | XP_011536722.1:p.Cys85Tyr | |
| XM_017019364.2:c.761G>A | XP_016874853.1:p.Cys254Tyr | |
| XM_017019365.2:c.761G>A | XP_016874854.1:p.Cys254Tyr | |
| XM_017019366.2:c.368G>A | XP_016874855.1:p.Cys123Tyr | |
| XM_017019367.2:c.368G>A | XP_016874856.1:p.Cys123Tyr | |
| XR_001749352.2:n.186+26119C>T | ||
| XR_001749353.2:n.304-14962C>T | ||
| XR_001749354.2:n.186+26119C>T | ||
| XR_945459.3:n.187-14962C>T | ||
| XR_945460.3:n.299-14962C>T | ||
| NM_002562.6:c.1121G>A MANE Select | NP_002553.3:p.Cys374Tyr | |
| NR_033948.2:n.1439G>A | ||
| NR_033949.2:n.1355G>A | ||
| NR_033950.2:n.1316G>A | ||
| NR_033951.2:n.1300G>A | ||
| NR_033952.2:n.1227G>A | ||
| NR_033953.2:n.1131G>A | ||
| NR_033954.2:n.1119G>A | ||
| NR_033955.2:n.1079G>A | ||
| NR_033956.2:n.1006G>A |