Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48859588C>T , CM000665.2:g.48859588C>T | GRCh38 |
| NC_000003.11:g.48897021C>T , CM000665.1:g.48897021C>T | GRCh37 |
| NC_000003.10:g.48872025C>T | NCBI36 |
| NG_008171.1:g.44309G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000387.6:c.575G>A MANE Select | NP_000378.1:p.Trp192Ter |
| ENST00000319017.5:c.575G>A MANE Select | ENSP00000326305.4:p.Trp192Ter |
| NM_000387.5:c.575G>A | NP_000378.1:p.Trp192Ter |
| ENST00000319017.4:c.575G>A | ENSP00000326305.4:p.Trp192Ter |
| ENST00000430379.5:c.356G>A | ENSP00000388986.1:p.Trp119Ter |
| ENST00000440964.1:c.*405G>A | ENSP00000388563.1:n.*405G>A |
| XM_006713327.1:c.536-1816G>A | XP_006713390.1:n.536-1816G>A |