Linked Data
dbSNP Id:
rs757687405
ExAC:
12:121615212 A / G
gnomAD v2:
12-121615212-A-G
gnomAD v3:
12-121177409-A-G
gnomAD v4:
12-121177409-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121177409A>G , CM000674.2:g.121177409A>G | GRCh38 |
| NC_000012.11:g.121615212A>G , CM000674.1:g.121615212A>G | GRCh37 |
| NC_000012.10:g.120099595A>G | NCBI36 |
| NG_011471.2:g.49535A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1151A>G MANE Select | ENSP00000330696.6:p.Tyr384Cys | |
| ENST00000261826.10:c.*604A>G | ENSP00000261826.6:n.*604A>G | |
| ENST00000328963.9:c.1151A>G | ENSP00000330696.6:p.Tyr384Cys | |
| ENST00000535250.5:c.1235A>G | ENSP00000442572.2:n.1235A>G | |
| ENST00000535600.2:c.968A>G | ENSP00000442470.1:n.968A>G | |
| ENST00000537312.5:c.*922A>G | ENSP00000438586.1:n.*922A>G | |
| ENST00000538011.5:c.1290A>G | ENSP00000439247.1:n.1290A>G | |
| ENST00000539606.5:c.1374A>G | ENSP00000445325.1:n.1374A>G | |
| ENST00000539695.5:n.1320A>G | ||
| ENST00000541022.5:c.941A>G | ENSP00000441230.1:n.941A>G | |
| ENST00000541564.5:c.1014A>G | ENSP00000443640.1:n.1014A>G | |
| ENST00000541716.5:c.1162A>G | ENSP00000437729.1:n.1162A>G | |
| NM_002562.5:c.1151A>G | NP_002553.3:p.Tyr384Cys | |
| NR_033948.1:n.1517A>G | ||
| NR_033949.1:n.1433A>G | ||
| NR_033950.1:n.1394A>G | ||
| NR_033951.1:n.1378A>G | ||
| NR_033952.1:n.1305A>G | ||
| NR_033953.1:n.1218A>G | ||
| NR_033954.1:n.1197A>G | ||
| NR_033955.1:n.1157A>G | ||
| NR_033956.1:n.1084A>G | ||
| XM_011538418.1:c.884A>G | XP_011536720.1:p.Tyr295Cys | |
| XM_011538419.1:c.839A>G | XP_011536721.1:p.Tyr280Cys | |
| XM_011538420.1:c.284A>G | XP_011536722.1:p.Tyr95Cys | |
| XR_945459.1:n.190-14992T>C | ||
| XR_945460.1:n.299-14992T>C | ||
| XM_011538419.3:c.839A>G | XP_011536721.1:p.Tyr280Cys | |
| XM_011538420.3:c.284A>G | XP_011536722.1:p.Tyr95Cys | |
| XM_017019364.2:c.791A>G | XP_016874853.1:p.Tyr264Cys | |
| XM_017019365.2:c.791A>G | XP_016874854.1:p.Tyr264Cys | |
| XM_017019366.2:c.398A>G | XP_016874855.1:p.Tyr133Cys | |
| XM_017019367.2:c.398A>G | XP_016874856.1:p.Tyr133Cys | |
| XR_001749352.2:n.186+26089T>C | ||
| XR_001749353.2:n.304-14992T>C | ||
| XR_001749354.2:n.186+26089T>C | ||
| XR_945459.3:n.187-14992T>C | ||
| XR_945460.3:n.299-14992T>C | ||
| NM_002562.6:c.1151A>G MANE Select | NP_002553.3:p.Tyr384Cys | |
| NR_033948.2:n.1469A>G | ||
| NR_033949.2:n.1385A>G | ||
| NR_033950.2:n.1346A>G | ||
| NR_033951.2:n.1330A>G | ||
| NR_033952.2:n.1257A>G | ||
| NR_033953.2:n.1161A>G | ||
| NR_033954.2:n.1149A>G | ||
| NR_033955.2:n.1109A>G | ||
| NR_033956.2:n.1036A>G |