Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40688458G>T , CM000682.2:g.40688458G>T | GRCh38 |
| NC_000020.10:g.39317098G>T , CM000682.1:g.39317098G>T | GRCh37 |
| NC_000020.9:g.38750512G>T | NCBI36 |
| NG_023378.1:g.5779C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005461.5:c.393C>A MANE Select | NP_005452.2:p.His131Gln |
| ENST00000373313.3:c.393C>A MANE Select | ENSP00000362410.2:p.His131Gln |
| NM_005461.4:c.393C>A | NP_005452.2:p.His131Gln |
| ENST00000373313.2:c.393C>A | ENSP00000362410.2:p.His131Gln |