Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94735727G>T , CM000672.2:g.94735727G>T | GRCh38 |
| NC_000010.10:g.96495484G>T , CM000672.1:g.96495484G>T | GRCh37 |
| NC_000010.9:g.96485474G>T | NCBI36 |
| NG_008373.1:g.57234G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000772.3:c.*283G>T MANE Select | NP_000763.1:n.*283G>T |
| ENST00000285979.11:c.*283G>T MANE Select | ENSP00000285979.6:n.*283G>T |
| NM_000772.2:c.*283G>T | NP_000763.1:n.*283G>T |
| NM_001128925.1:c.*283G>T | NP_001122397.1:n.*283G>T |
| NM_001128925.2:c.*283G>T | NP_001122397.1:n.*283G>T |
| ENST00000285979.10:c.*283G>T | ENSP00000285979.6:n.*283G>T |
| ENST00000464755.1:c.931+2289G>T | ENSP00000483243.1:n.931+2289G>T |