Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212883427A>T , CM000663.2:g.212883427A>T | GRCh38 |
| NC_000001.10:g.213056769A>T , CM000663.1:g.213056769A>T | GRCh37 |
| NC_000001.9:g.211123392A>T | NCBI36 |
| NG_028131.1:g.30173A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.1081A>T MANE Select | ENSP00000355938.4:p.Thr361Ser | |
| ENST00000366971.8:c.1081A>T | ENSP00000355938.4:p.Thr361Ser | |
| ENST00000419102.1:c.477A>T | ||
| ENST00000474693.1:n.306A>T | ||
| ENST00000483790.1:n.19A>T | ||
| NM_014053.3:c.1081A>T | NP_054772.1:p.Thr361Ser | |
| XM_011509446.1:c.1081A>T | XP_011507748.1:p.Thr361Ser | |
| XR_247024.1:n.1255A>T | ||
| XR_426771.1:n.1382A>T | ||
| XM_011509446.3:c.1081A>T | XP_011507748.1:p.Thr361Ser | |
| XR_247024.3:n.1255A>T | ||
| NM_014053.4:c.1081A>T MANE Select | NP_054772.1:p.Thr361Ser |