Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.30881155C>T , CM000683.2:g.30881155C>T | GRCh38 |
| NC_000021.8:g.32253474C>T , CM000683.1:g.32253474C>T | GRCh37 |
| NC_000021.7:g.31175345C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_175858.3:c.370G>A MANE Select | NP_787054.1:p.Val124Met |
| ENST00000332378.6:c.370G>A MANE Select | ENSP00000330720.4:p.Val124Met |
| NM_175858.2:c.370G>A | NP_787054.1:p.Val124Met |
| ENST00000332378.5:c.370G>A | ENSP00000330720.4:p.Val124Met |
| XR_937660.1:n.566-74891G>A |