Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95544252G>T , CM000676.2:g.95544252G>T | GRCh38 |
| NC_000014.8:g.96010589G>T , CM000676.1:g.96010589G>T | GRCh37 |
| NC_000014.7:g.95080342G>T | NCBI36 |
| NG_021217.1:g.14267G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016417.3:c.*127G>T MANE Select | NP_057501.2:n.*127G>T |
| ENST00000331334.5:c.*127G>T MANE Select | ENSP00000328570.4:n.*127G>T |
| NM_016417.2:c.*127G>T | NP_057501.2:n.*127G>T |
| ENST00000331334.4:c.*127G>T | ENSP00000328570.4:n.*127G>T |
| ENST00000553672.1:n.607G>T | |
| ENST00000557731.1:c.1391G>T |