Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442375T>G , CM000666.2:g.177442375T>G | GRCh38 |
| NC_000004.11:g.178363529T>G , CM000666.1:g.178363529T>G | GRCh37 |
| NC_000004.10:g.178600523T>G | NCBI36 |
| NG_011845.2:g.5129A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000027.4:c.1A>C MANE Select | NP_000018.2:p.Met1Leu |
| ENST00000264595.7:c.1A>C MANE Select | ENSP00000264595.2:p.Met1Leu |
| NM_000027.3:c.1A>C | NP_000018.2:p.Met1Leu |
| NM_001171988.1:c.1A>C | NP_001165459.1:p.Met1Leu |
| NM_001171988.2:c.1A>C | NP_001165459.1:p.Met1Leu |
| NR_033655.1:n.129A>C | |
| NR_033655.2:n.63A>C | |
| ENST00000264595.6:c.1A>C | ENSP00000264595.2:p.Met1Leu |
| ENST00000506853.5:n.35A>C | |
| ENST00000510955.5:n.35A>C | |
| ENST00000511231.1:n.35A>C | |
| XM_006714123.2:c.1A>C | XP_006714186.1:p.Met1Leu |
| XR_001741155.2:n.95A>C |