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