Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148228400T= , CM000669.2:g.148228400T= | GRCh38 |
| NC_000007.13:g.147925492T= , CM000669.1:g.147925492T= | GRCh37 |
| NC_000007.12:g.147556425T= | NCBI36 |
| NG_007092.2:g.2117040T= | |
| NG_007092.3:g.2117400T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.3248-1246T= MANE Select | ENSP00000354778.3:n.3248-1246T= | |
| ENST00000636870.1:n.3110-1246T= | ||
| ENST00000637020.1:n.1066-1246T= | ||
| ENST00000361727.7:c.3248-1246T= | ENSP00000354778.3:n.3248-1246T= | |
| ENST00000627772.2:n.1421-1246T= | ||
| ENST00000628930.2:c.425-1246T= | ENSP00000487516.1:n.425-1246T= | |
| NM_014141.5:c.3248-1246T= | NP_054860.1:n.3248-1246T= | |
| XM_006715919.1:c.1736-1246T= | XP_006715982.1:n.1736-1246T= | |
| NM_014141.6:c.3248-1246T= MANE Select | NP_054860.1:n.3248-1246T= |