Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212858455G>T , CM000663.2:g.212858455G>T | GRCh38 |
| NC_000001.10:g.213031797G>T , CM000663.1:g.213031797G>T | GRCh37 |
| NC_000001.9:g.211098420G>T | NCBI36 |
| NG_028131.1:g.5201G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014053.4:c.3G>T MANE Select | NP_054772.1:p.Met1Ile |
| ENST00000366971.9:c.3G>T MANE Select | ENSP00000355938.4:p.Met1Ile |
| NM_014053.3:c.3G>T | NP_054772.1:p.Met1Ile |
| ENST00000366971.8:c.3G>T | ENSP00000355938.4:p.Met1Ile |
| XM_011509446.1:c.3G>T | XP_011507748.1:p.Met1Ile |
| XM_011509446.3:c.3G>T | XP_011507748.1:p.Met1Ile |
| XM_011509447.1:c.3G>T | XP_011507749.1:p.Met1Ile |
| XM_011509447.2:c.3G>T | XP_011507749.1:p.Met1Ile |
| XM_011509448.1:c.3G>T | XP_011507750.1:p.Met1Ile |
| XR_247024.1:n.177G>T | |
| XR_247024.3:n.177G>T | |
| XR_426771.1:n.177G>T | |
| XR_426772.2:n.177G>T | |
| XR_426772.3:n.177G>T | |
| XR_921769.1:n.177G>T |