Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95677256A>G , CM000675.2:g.95677256A>G | GRCh38 |
| NC_000013.10:g.96329510A>G , CM000675.1:g.96329510A>G | GRCh37 |
| NC_000013.9:g.95127511A>G | NCBI36 |
| NG_041830.1:g.5118A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006260.5:c.1A>G MANE Select | NP_006251.1:p.Met1Val |
| ENST00000602402.6:c.1A>G MANE Select | ENSP00000473631.1:p.Met1Val |
| NM_006260.4:c.1A>G | NP_006251.1:p.Met1Val |
| ENST00000376795.6:c.1A>G | ENSP00000365991.6:p.Met1Val |
| ENST00000602402.5:c.1A>G | ENSP00000473631.1:p.Met1Val |
| XM_011521104.1:c.1A>G | XP_011519406.1:p.Met1Val |
| XM_011521104.3:c.1A>G | XP_011519406.1:p.Met1Val |