Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168502030G>A , CM000667.2:g.168502030G>A | GRCh38 |
| NC_000005.9:g.167929035G>A , CM000667.1:g.167929035G>A | GRCh37 |
| NC_000005.8:g.167861613G>A | NCBI36 |
| NG_041809.1:g.20573G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231572.8:c.982G>A MANE Select | ENSP00000231572.3:p.Val328Ile | |
| ENST00000231572.7:c.982G>A | ENSP00000231572.3:p.Val328Ile | |
| ENST00000518757.5:n.495G>A | ||
| ENST00000520013.5:c.*483G>A | ENSP00000429030.1:n.*483G>A | |
| ENST00000520421.1:n.391G>A | ||
| NM_002887.3:c.982G>A | NP_002878.2:p.Val328Ile | |
| NM_002887.4:c.982G>A MANE Select | NP_002878.2:p.Val328Ile |