Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48472594G>C , CM000677.2:g.48472594G>C | GRCh38 |
| NC_000015.9:g.48764791G>C , CM000677.1:g.48764791G>C | GRCh37 |
| NC_000015.8:g.46552083G>C | NCBI36 |
| NG_008805.2:g.178195C>G , LRG_778:g.178195C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4293C>G | ENSP00000453958.2:p.Cys1431Trp | |
| ENST00000674301.2:c.4293C>G | ENSP00000501333.2:p.Cys1431Trp | |
| ENST00000683268.1:n.260C>G | ||
| ENST00000684448.1:n.2967C>G | ||
| ENST00000316623.10:c.4293C>G MANE Select | ENSP00000325527.5:p.Cys1431Trp | |
| ENST00000316623.9:c.4293C>G | ENSP00000325527.5:p.Cys1431Trp | |
| ENST00000537463.6:c.*56C>G | ENSP00000440294.2:n.*56C>G | |
| NM_000138.4:c.4293C>G , LRG_778t1:c.4293C>G | NP_000129.3:p.Cys1431Trp | |
| NM_000138.5:c.4293C>G MANE Select | NP_000129.3:p.Cys1431Trp |