Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.175441697G>A , CM000667.2:g.175441697G>A | GRCh38 |
| NC_000005.9:g.174868700G>A , CM000667.1:g.174868700G>A | GRCh37 |
| NC_000005.8:g.174801306G>A | NCBI36 |
| NG_011802.1:g.7464C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000794.5:c.*62C>T MANE Select | NP_000785.1:n.*62C>T |
| ENST00000393752.3:c.*62C>T MANE Select | ENSP00000377353.1:n.*62C>T |
| NM_000794.3:c.*62C>T | NP_000785.1:n.*62C>T |
| NM_000794.4:c.*62C>T | NP_000785.1:n.*62C>T |
| ENST00000393752.2:c.*62C>T | ENSP00000377353.1:n.*62C>T |