Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9890795A>G , CM000665.2:g.9890795A>G | GRCh38 |
| NC_000003.11:g.9932479A>G , CM000665.1:g.9932479A>G | GRCh37 |
| NC_000003.10:g.9907479A>G | NCBI36 |
| NG_041779.1:g.5209A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489724.2:c.73A>G | ENSP00000497724.1:p.Met25Val | |
| ENST00000647897.1:c.73A>G MANE Select | ENSP00000496942.1:p.Met25Val | |
| ENST00000307768.4:c.73A>G | ENSP00000306106.4:p.Met25Val | |
| ENST00000489724.1:n.163A>G | ||
| ENST00000616966.2:c.73A>G | ENSP00000481606.1:p.Met25Val | |
| NM_032492.3:c.73A>G | NP_115881.3:p.Met25Val | |
| NM_001363890.1:c.-196A>G | NP_001350819.1:n.-196A>G | |
| NM_032492.4:c.73A>G MANE Select | NP_115881.3:p.Met25Val |