Linked Data
dbSNP Id:
rs1344890173
gnomAD v4:
12-121177422-C-T
MyVariant Identifiers:
chr12:g.121615225C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121177422C>T , CM000674.2:g.121177422C>T | GRCh38 |
| NC_000012.11:g.121615225C>T , CM000674.1:g.121615225C>T | GRCh37 |
| NC_000012.10:g.120099608C>T | NCBI36 |
| NG_011471.2:g.49548C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1164C>T MANE Select | ENSP00000330696.6:p.Cys388= | |
| ENST00000261826.10:c.*617C>T | ENSP00000261826.6:n.*617C>T | |
| ENST00000328963.9:c.1164C>T | ENSP00000330696.6:p.Cys388= | |
| ENST00000535250.5:c.1248C>T | ENSP00000442572.2:n.1248C>T | |
| ENST00000535600.2:c.981C>T | ENSP00000442470.1:n.981C>T | |
| ENST00000537312.5:c.*935C>T | ENSP00000438586.1:n.*935C>T | |
| ENST00000538011.5:c.1303C>T | ENSP00000439247.1:n.1303C>T | |
| ENST00000539606.5:c.1387C>T | ENSP00000445325.1:n.1387C>T | |
| ENST00000539695.5:n.1333C>T | ||
| ENST00000541022.5:c.954C>T | ENSP00000441230.1:n.954C>T | |
| ENST00000541564.5:c.1027C>T | ENSP00000443640.1:n.1027C>T | |
| ENST00000541716.5:c.1175C>T | ENSP00000437729.1:n.1175C>T | |
| NM_002562.5:c.1164C>T | NP_002553.3:p.Cys388= | |
| NR_033948.1:n.1530C>T | ||
| NR_033949.1:n.1446C>T | ||
| NR_033950.1:n.1407C>T | ||
| NR_033951.1:n.1391C>T | ||
| NR_033952.1:n.1318C>T | ||
| NR_033953.1:n.1231C>T | ||
| NR_033954.1:n.1210C>T | ||
| NR_033955.1:n.1170C>T | ||
| NR_033956.1:n.1097C>T | ||
| XM_011538418.1:c.897C>T | XP_011536720.1:p.Cys299= | |
| XM_011538419.1:c.852C>T | XP_011536721.1:p.Cys284= | |
| XM_011538420.1:c.297C>T | XP_011536722.1:p.Cys99= | |
| XR_945459.1:n.190-15005G>A | ||
| XR_945460.1:n.299-15005G>A | ||
| XM_011538419.3:c.852C>T | XP_011536721.1:p.Cys284= | |
| XM_011538420.3:c.297C>T | XP_011536722.1:p.Cys99= | |
| XM_017019364.2:c.804C>T | XP_016874853.1:p.Cys268= | |
| XM_017019365.2:c.804C>T | XP_016874854.1:p.Cys268= | |
| XM_017019366.2:c.411C>T | XP_016874855.1:p.Cys137= | |
| XM_017019367.2:c.411C>T | XP_016874856.1:p.Cys137= | |
| XR_001749352.2:n.186+26076G>A | ||
| XR_001749353.2:n.304-15005G>A | ||
| XR_001749354.2:n.186+26076G>A | ||
| XR_945459.3:n.187-15005G>A | ||
| XR_945460.3:n.299-15005G>A | ||
| NM_002562.6:c.1164C>T MANE Select | NP_002553.3:p.Cys388= | |
| NR_033948.2:n.1482C>T | ||
| NR_033949.2:n.1398C>T | ||
| NR_033950.2:n.1359C>T | ||
| NR_033951.2:n.1343C>T | ||
| NR_033952.2:n.1270C>T | ||
| NR_033953.2:n.1174C>T | ||
| NR_033954.2:n.1162C>T | ||
| NR_033955.2:n.1122C>T | ||
| NR_033956.2:n.1049C>T |