Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24495331G>A , CM000668.2:g.24495331G>A | GRCh38 |
| NC_000006.11:g.24495559G>A , CM000668.1:g.24495559G>A | GRCh37 |
| NC_000006.10:g.24603538G>A | NCBI36 |
| NG_008161.1:g.5363G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080.3:c.335G>A MANE Select | NP_001071.1:p.Trp112Ter |
| ENST00000357578.8:c.335G>A MANE Select | ENSP00000350191.3:p.Trp112Ter |
| NM_001368954.1:c.335G>A | NP_001355883.1:p.Trp112Ter |
| NM_170740.1:c.335G>A | NP_733936.1:p.Trp112Ter |
| ENST00000348925.2:c.335G>A | ENSP00000314649.3:p.Trp112Ter |
| ENST00000357578.7:c.335G>A | ENSP00000350191.3:p.Trp112Ter |
| ENST00000491546.5:c.335G>A | ENSP00000417687.1:p.Trp112Ter |
| ENST00000672352.1:c.98G>A | ENSP00000500876.1:p.Trp33Ter |
| ENST00000672557.1:c.96G>A | |
| ENST00000672652.1:c.256G>A |