Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201643400T>C , CM000664.2:g.201643400T>C | GRCh38 |
| NC_000002.11:g.202508123T>C , CM000664.1:g.202508123T>C | GRCh37 |
| NC_000002.10:g.202216368T>C | NCBI36 |
| NG_012654.1:g.60295A>G | |
| NG_032049.1:g.5130A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001044385.3:c.1A>G MANE Select | NP_001037850.1:p.Met1Val |
| ENST00000409883.7:c.1A>G MANE Select | ENSP00000386264.2:p.Met1Val |
| NM_001044385.2:c.1A>G | NP_001037850.1:p.Met1Val |
| ENST00000286196.9:c.-74A>G | ENSP00000286196.5:n.-74A>G |
| ENST00000409883.6:c.1A>G | ENSP00000386264.2:p.Met1Val |
| ENST00000432684.6:c.1A>G | ENSP00000413230.2:p.Met1Val |
| ENST00000444047.6:c.1A>G | ENSP00000402681.2:p.Met1Val |
| ENST00000489550.5:n.19A>G |