Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146054C>A , CM000670.2:g.38146054C>A | GRCh38 |
| NC_000008.10:g.38003572C>A , CM000670.1:g.38003572C>A | GRCh37 |
| NC_000008.9:g.38122729C>A | NCBI36 |
| NG_011827.1:g.10029G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.559G>T MANE Select | NP_000340.2:p.Val187Leu |
| ENST00000276449.9:c.559G>T MANE Select | ENSP00000276449.3:p.Val187Leu |
| NM_000349.2:c.559G>T | NP_000340.2:p.Val187Leu |
| ENST00000276449.8:c.559G>T | ENSP00000276449.3:p.Val187Leu |
| ENST00000520114.1:n.1046G>T | |
| ENST00000522050.1:c.495G>T | |
| XM_006716392.1:c.559G>T | XP_006716455.1:p.Val187Leu |