Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67930543C>T , CM000678.2:g.67930543C>T | GRCh38 |
| NC_000016.9:g.67964446C>T , CM000678.1:g.67964446C>T | GRCh37 |
| NC_000016.8:g.66521947C>T | NCBI36 |
| NG_051639.1:g.6333G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574481.6:c.364G>A MANE Select | ENSP00000458537.2:p.Val122Met | |
| ENST00000571044.5:c.364G>A | ENSP00000461842.1:p.Val122Met | |
| ENST00000571605.1:c.241G>A | ENSP00000458598.1:p.Val81Met | |
| ENST00000572144.5:n.1574G>A | ||
| ENST00000574481.5:c.364G>A | ENSP00000458537.2:p.Val122Met | |
| ENST00000575231.1:n.4845G>A | ||
| ENST00000576915.1:n.694G>A | ||
| NM_001907.2:c.364G>A | NP_001898.1:p.Val122Met | |
| NM_001907.3:c.364G>A MANE Select | NP_001898.1:p.Val122Met |