Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.175441614C>T , CM000667.2:g.175441614C>T | GRCh38 |
| NC_000005.9:g.174868617C>T , CM000667.1:g.174868617C>T | GRCh37 |
| NC_000005.8:g.174801223C>T | NCBI36 |
| NG_011802.1:g.7547G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393752.3:c.*145G>A MANE Select | ENSP00000377353.1:n.*145G>A | |
| ENST00000393752.2:c.*145G>A | ENSP00000377353.1:n.*145G>A | |
| NM_000794.3:c.*145G>A | NP_000785.1:n.*145G>A | |
| NM_000794.4:c.*145G>A | NP_000785.1:n.*145G>A | |
| NM_000794.5:c.*145G>A MANE Select | NP_000785.1:n.*145G>A |