Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38731890G>A , CM000664.2:g.38731890G>A | GRCh38 |
| NC_000002.11:g.38959032G>A , CM000664.1:g.38959032G>A | GRCh37 |
| NC_000002.10:g.38812536G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138801.3:c.932G>A MANE Select | NP_620156.1:p.Trp311Ter |
| ENST00000272252.10:c.932G>A MANE Select | ENSP00000272252.5:p.Trp311Ter |
| NM_138801.2:c.932G>A | NP_620156.1:p.Trp311Ter |
| ENST00000272252.9:c.932G>A | ENSP00000272252.5:p.Trp311Ter |
| ENST00000410063.5:c.488G>A | ENSP00000386233.1:p.Trp163Ter |
| ENST00000434934.1:c.572G>A | ENSP00000399473.1:p.Trp191Ter |
| XR_939976.1:n.85+1576C>T |