ClinVar Variation:
dbSNP:
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72805492G>A , CM000671.2:g.72805492G>A | GRCh38 |
| NC_000009.11:g.75420408G>A , CM000671.1:g.75420408G>A | GRCh37 |
| NC_000009.10:g.74610228G>A | NCBI36 |
| NG_008213.1:g.288692G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1677G>A MANE Select | ENSP00000297784.6:p.Trp559Ter | |
| ENST00000644967.1:c.1239G>A | ENSP00000496159.1:p.Trp413Ter | |
| ENST00000645053.1:c.1239G>A | ENSP00000493838.1:p.Trp413Ter | |
| ENST00000645208.2:c.1677G>A | ENSP00000494684.1:p.Trp559Ter | |
| ENST00000645773.1:c.1551G>A | ENSP00000493698.1:p.Trp517Ter | |
| ENST00000645787.1:n.1820G>A | ||
| ENST00000646619.1:c.1239G>A | ENSP00000493726.1:p.Trp413Ter | |
| ENST00000651183.1:c.1239G>A | ENSP00000498723.1:p.Trp413Ter | |
| ENST00000297784.9:c.1677G>A | ENSP00000297784.5:p.Trp559Ter | |
| ENST00000340019.4:c.1677G>A | ENSP00000341433.3:p.Trp559Ter | |
| ENST00000486417.5:n.301G>A | ||
| NM_138691.2:c.1677G>A | NP_619636.2:p.Trp559Ter | |
| XM_011518213.1:c.2265G>A | XP_011516515.1:p.Trp755Ter | |
| XM_017014256.1:c.1680G>A | XP_016869745.1:p.Trp560Ter | |
| NM_138691.3:c.1677G>A MANE Select | NP_619636.2:p.Trp559Ter |