Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7310697G>A , CM000674.2:g.7310697G>A | GRCh38 |
| NC_000012.11:g.7463293G>A , CM000674.1:g.7463293G>A | GRCh37 |
| NC_000012.10:g.7354560G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080454.2:c.571G>A MANE Select | NP_001073923.1:p.Val191Met |
| ENST00000399422.5:c.571G>A MANE Select | ENSP00000382349.4:p.Val191Met |
| NM_001080454.1:c.571G>A | NP_001073923.1:p.Val191Met |
| ENST00000399422.4:c.571G>A | ENSP00000382349.4:p.Val191Met |
| ENST00000533292.1:n.25G>A |