Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169704697G= , CM000663.2:g.169704697G= | GRCh38 |
| NC_000001.10:g.169673838G= , CM000663.1:g.169673838G= | GRCh37 |
| NC_000001.9:g.167940462G= | NCBI36 |
| NG_016132.1:g.12006C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000655.5:c.637C= (SELL) MANE Select | NP_000646.3:p.Pro213= |
| ENST00000236147.6:c.637C= (SELL) MANE Select | ENSP00000236147.5:p.Pro213= |
| NM_000655.4:c.676C= (SELL) | NP_000646.2:p.Pro226= |
| NR_029467.1:n.605C= (SELL) | |
| NR_029467.2:n.606C= (SELL) | |
| ENST00000236147.4:c.676C= (SELL) | ENSP00000236147.4:p.Pro226= |
| ENST00000460650.5:n.57C= (SELL) | |
| ENST00000463108.5:n.837C= (SELL) | |
| ENST00000479657.5:n.389C= (SELL) | |
| ENST00000498289.5:n.851+20765G= (FIRRM) | |
| ENST00000650983.1:c.676C= (SELL) | ENSP00000498227.1:p.Pro226= |