Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36455801T>G , CM000663.2:g.36455801T>G | GRCh38 |
| NC_000001.10:g.36921402T>G , CM000663.1:g.36921402T>G | GRCh37 |
| NC_000001.9:g.36693989T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031280.4:c.761A>C MANE Select | NP_112570.2:p.Lys254Thr |
| ENST00000373116.6:c.761A>C MANE Select | ENSP00000362208.5:p.Lys254Thr |
| NM_031280.3:c.761A>C | NP_112570.2:p.Lys254Thr |
| ENST00000373116.5:c.761A>C | ENSP00000362208.5:p.Lys254Thr |
| ENST00000462067.1:n.1585A>C | |
| ENST00000477040.1:n.505A>C | |
| ENST00000488606.5:n.2098A>C |