Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74304311G>A , CM000685.2:g.74304311G>A | GRCh38 |
| NC_000023.10:g.73524146G>A , CM000685.1:g.73524146G>A | GRCh37 |
| NC_000023.9:g.73440871G>A | NCBI36 |
| NG_021228.1:g.5122G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_203303.3:c.45G>A MANE Select | NP_976048.1:p.Trp15Ter |
| ENST00000339534.4:c.45G>A MANE Select | ENSP00000345633.2:p.Trp15Ter |
| NM_203303.2:c.45G>A | NP_976048.1:p.Trp15Ter |
| ENST00000339534.3:c.45G>A | ENSP00000345633.2:p.Trp15Ter |