Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924445T>A , CM000675.2:g.27924445T>A | GRCh38 |
| NC_000013.10:g.28498582T>A , CM000675.1:g.28498582T>A | GRCh37 |
| NC_000013.9:g.27396582T>A | NCBI36 |
| NG_008183.1:g.9415T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.596T>A MANE Select | ENSP00000370421.4:p.Met199Lys | |
| ENST00000381033.4:c.596T>A | ENSP00000370421.4:p.Met199Lys | |
| NM_000209.3:c.596T>A | NP_000200.1:p.Met199Lys | |
| NM_000209.4:c.596T>A MANE Select | NP_000200.1:p.Met199Lys |