Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169707443C= , CM000663.2:g.169707443C= | GRCh38 |
| NC_000001.10:g.169676584C= , CM000663.1:g.169676584C= | GRCh37 |
| NC_000001.9:g.167943208C= | NCBI36 |
| NG_016132.1:g.9260G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236147.6:c.479G= (SELL) MANE Select | ENSP00000236147.5:p.Cys160= | |
| ENST00000650983.1:c.518G= (SELL) | ENSP00000498227.1:p.Cys173= | |
| ENST00000236147.4:c.518G= (SELL) | ENSP00000236147.4:p.Cys173= | |
| ENST00000463108.5:n.679G= (SELL) | ||
| ENST00000466340.1:n.491G= (SELL) | ||
| ENST00000479657.5:n.231G= (SELL) | ||
| ENST00000498289.5:n.851+23511C= (FIRRM) | ||
| NM_000655.4:c.518G= (SELL) | NP_000646.2:p.Cys173= | |
| NR_029467.1:n.447G= (SELL) | ||
| NM_000655.5:c.479G= (SELL) MANE Select | NP_000646.3:p.Cys160= | |
| NR_029467.2:n.448G= (SELL) |