Linked Data
dbSNP Id:
rs542185860
ExAC:
11:134132486 C / T
gnomAD v2:
11-134132486-C-T
gnomAD v3:
11-134262592-C-T
gnomAD v4:
11-134262592-C-T
COSMIC:
COSM1181507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134262592C>T , CM000673.2:g.134262592C>T | GRCh38 |
| NC_000011.9:g.134132486C>T , CM000673.1:g.134132486C>T | GRCh37 |
| NC_000011.8:g.133637696C>T | NCBI36 |
| NG_015842.1:g.14053C>T , LRG_448:g.14053C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281182.9:c.1165C>T MANE Select | ENSP00000281182.5:p.Arg389Trp | |
| ENST00000281182.8:c.1165C>T | ENSP00000281182.4:p.Arg389Trp | |
| ENST00000374752.6:c.784C>T | ENSP00000363884.4:p.Arg262Trp | |
| ENST00000524426.5:c.*895C>T | ENSP00000431310.1:n.*895C>T | |
| ENST00000524502.2:n.165C>T | ||
| ENST00000526026.5:c.*854C>T | ENSP00000431532.1:n.*854C>T | |
| ENST00000531338.5:n.1409C>T | ||
| ENST00000533387.5:n.2224C>T | ||
| NM_014384.2:c.1165C>T , LRG_448t1:c.1165C>T | NP_055199.1:p.Arg389Trp | |
| XM_005271501.2:c.1165C>T | XP_005271558.1:p.Arg389Trp | |
| XM_011542750.1:c.1165C>T | XP_011541052.1:p.Arg389Trp | |
| XR_947819.1:n.1229C>T | ||
| XR_947820.1:n.1617C>T | ||
| XR_947821.1:n.1374C>T | ||
| XR_947822.1:n.1059C>T | ||
| XR_947823.1:n.1215C>T | ||
| XM_005271505.4:c.*1430C>T | XP_005271562.1:n.*1430C>T | |
| XM_011542750.3:c.1165C>T | XP_011541052.1:p.Arg389Trp | |
| XM_017017542.2:c.1165C>T | XP_016873031.1:p.Arg389Trp | |
| XM_017017543.2:c.1165C>T | XP_016873032.1:p.Arg389Trp | |
| XM_017017544.2:c.*134C>T | XP_016873033.1:n.*134C>T | |
| XM_017017545.2:c.*377C>T | XP_016873034.1:n.*377C>T | |
| XM_017017546.2:c.871C>T | XP_016873035.1:p.Arg291Trp | |
| XM_017017547.2:c.871C>T | XP_016873036.1:p.Arg291Trp | |
| XM_017017548.2:c.*1801C>T | XP_016873037.1:n.*1801C>T | |
| XM_017017549.2:c.*1575C>T | XP_016873038.1:n.*1575C>T | |
| XM_024448437.1:c.*312C>T | XP_024304205.1:n.*312C>T | |
| XM_024448438.1:c.784C>T | XP_024304206.1:p.Arg262Trp | |
| NM_014384.3:c.1165C>T MANE Select | NP_055199.1:p.Arg389Trp |