Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78620794T>C , CM000677.2:g.78620794T>C | GRCh38 |
| NC_000015.9:g.78913136T>C , CM000677.1:g.78913136T>C | GRCh37 |
| NC_000015.8:g.76700191T>C | NCBI36 |
| NG_016143.1:g.5502A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000743.5:c.1A>G MANE Select | NP_000734.2:p.Met1Val |
| ENST00000326828.6:c.1A>G MANE Select | ENSP00000315602.5:p.Met1Val |
| NM_000743.4:c.1A>G | NP_000734.2:p.Met1Val |
| NM_001166694.1:c.1A>G | NP_001160166.1:p.Met1Val |
| NM_001166694.2:c.1A>G | NP_001160166.1:p.Met1Val |
| NR_046313.1:n.502A>G | |
| NR_046313.2:n.203A>G | |
| ENST00000326828.5:c.1A>G | ENSP00000315602.5:p.Met1Val |
| ENST00000348639.7:c.1A>G | ENSP00000267951.4:p.Met1Val |
| ENST00000559658.5:c.1A>G | ENSP00000452896.1:p.Met1Val |