Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.22209331G>A , CM000672.2:g.22209331G>A | GRCh38 |
| NC_000010.10:g.22498260G>A , CM000672.1:g.22498260G>A | GRCh37 |
| NC_000010.9:g.22538266G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001394757.1:c.653C>T MANE Select | NP_001381686.1:p.Ala218Val |
| ENST00000422359.3:c.653C>T MANE Select | ENSP00000473842.1:p.Ala218Val |
| NM_001199938.1:c.653C>T | NP_001186867.1:p.Ala218Val |
| NM_001199938.2:c.653C>T | NP_001186867.1:p.Ala218Val |
| ENST00000422359.2:c.653C>T | ENSP00000473842.1:p.Ala218Val |