Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144356C>T , CM000670.2:g.38144356C>T | GRCh38 |
| NC_000008.10:g.38001874C>T , CM000670.1:g.38001874C>T | GRCh37 |
| NC_000008.9:g.38121031C>T | NCBI36 |
| NG_011827.1:g.11727G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.775G>A MANE Select | ENSP00000276449.3:p.Val259Ile | |
| ENST00000276449.8:c.775G>A | ENSP00000276449.3:p.Val259Ile | |
| ENST00000520114.1:n.2744G>A | ||
| ENST00000522050.1:c.617G>A | ||
| NM_000349.2:c.775G>A | NP_000340.2:p.Val259Ile | |
| XM_006716392.1:c.681G>A | XP_006716455.1:p.Arg227= | |
| NM_000349.3:c.775G>A MANE Select | NP_000340.2:p.Val259Ile |