Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.56248973G>A , CM000682.2:g.56248973G>A | GRCh38 |
| NC_000020.10:g.54824029G>A , CM000682.1:g.54824029G>A | GRCh37 |
| NC_000020.9:g.54257436G>A | NCBI36 |
| NG_012200.1:g.5242G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019888.3:c.130G>A MANE Select | NP_063941.3:p.Val44Ile |
| ENST00000243911.2:c.130G>A MANE Select | ENSP00000243911.2:p.Val44Ile |