Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40793227A>G , CM000675.2:g.40793227A>G | GRCh38 |
| NC_000013.10:g.41367363A>G , CM000675.1:g.41367363A>G | GRCh37 |
| NC_000013.9:g.40265363A>G | NCBI36 |
| NG_012248.1:g.8817A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014252.4:c.1A>G MANE Select | NP_055067.1:p.Met1Val |
| ENST00000338625.9:c.1A>G MANE Select | ENSP00000342267.4:p.Met1Val |
| NM_014252.3:c.1A>G | NP_055067.1:p.Met1Val |
| ENST00000338625.8:c.1A>G | ENSP00000342267.4:p.Met1Val |
| ENST00000417731.5:c.1A>G | ENSP00000415826.1:p.Met1Val |
| ENST00000470509.1:c.1A>G | ENSP00000431429.1:p.Met1Val |
| ENST00000478827.1:n.322A>G | |
| ENST00000707033.1:c.1A>G | ENSP00000516711.1:p.Met1Val |