Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10286406G>A , CM000667.2:g.10286406G>A | GRCh38 |
| NC_000005.9:g.10286518G>A , CM000667.1:g.10286518G>A | GRCh37 |
| NC_000005.8:g.10339518G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296658.4:c.414C>T MANE Select | ENSP00000296658.3:p.Val138= | |
| ENST00000296658.3:c.414C>T | ENSP00000296658.3:p.Val138= | |
| ENST00000506821.1:n.668C>T | ||
| ENST00000510532.5:n.482C>T | ||
| ENST00000511963.5:n.522C>T | ||
| NM_138809.3:c.414C>T | NP_620164.1:p.Val138= | |
| NM_138809.4:c.414C>T MANE Select | NP_620164.1:p.Val138= |