Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76137021C= , CM000679.2:g.76137021C= | GRCh38 |
| NC_000017.10:g.74133102C= , CM000679.1:g.74133102C= | GRCh37 |
| NC_000017.9:g.71644697C= | NCBI36 |
| NG_013345.1:g.9279G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001454.4:c.*332G= MANE Select | NP_001445.2:n.*332G= |
| ENST00000322957.7:c.*332G= MANE Select | ENSP00000323880.4:n.*332G= |
| NM_001454.3:c.*332G= | NP_001445.2:n.*332G= |
| ENST00000322957.6:c.*332G= | ENSP00000323880.4:n.*332G= |