Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169707432A= , CM000663.2:g.169707432A= | GRCh38 |
| NC_000001.10:g.169676573A= , CM000663.1:g.169676573A= | GRCh37 |
| NC_000001.9:g.167943197A= | NCBI36 |
| NG_016132.1:g.9271T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236147.6:c.490T= (SELL) MANE Select | ENSP00000236147.5:p.Ser164= | |
| ENST00000650983.1:c.529T= (SELL) | ENSP00000498227.1:p.Ser177= | |
| ENST00000236147.4:c.529T= (SELL) | ENSP00000236147.4:p.Ser177= | |
| ENST00000463108.5:n.690T= (SELL) | ||
| ENST00000466340.1:n.502T= (SELL) | ||
| ENST00000479657.5:n.242T= (SELL) | ||
| ENST00000498289.5:n.851+23500A= (FIRRM) | ||
| NM_000655.4:c.529T= (SELL) | NP_000646.2:p.Ser177= | |
| NR_029467.1:n.458T= (SELL) | ||
| NM_000655.5:c.490T= (SELL) MANE Select | NP_000646.3:p.Ser164= | |
| NR_029467.2:n.459T= (SELL) |