Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48472594G>T , CM000677.2:g.48472594G>T | GRCh38 |
| NC_000015.9:g.48764791G>T , CM000677.1:g.48764791G>T | GRCh37 |
| NC_000015.8:g.46552083G>T | NCBI36 |
| NG_008805.2:g.178195C>A , LRG_778:g.178195C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4293C>A | ENSP00000453958.2:p.Cys1431Ter | |
| ENST00000674301.2:c.4293C>A | ENSP00000501333.2:p.Cys1431Ter | |
| ENST00000683268.1:n.260C>A | ||
| ENST00000684448.1:n.2967C>A | ||
| ENST00000316623.10:c.4293C>A MANE Select | ENSP00000325527.5:p.Cys1431Ter | |
| ENST00000316623.9:c.4293C>A | ENSP00000325527.5:p.Cys1431Ter | |
| ENST00000537463.6:c.*56C>A | ENSP00000440294.2:n.*56C>A | |
| NM_000138.4:c.4293C>A , LRG_778t1:c.4293C>A | NP_000129.3:p.Cys1431Ter | |
| NM_000138.5:c.4293C>A MANE Select | NP_000129.3:p.Cys1431Ter |