Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111418146A>G , CM000674.2:g.111418146A>G | GRCh38 |
| NC_000012.11:g.111855950A>G , CM000674.1:g.111855950A>G | GRCh37 |
| NC_000012.10:g.110340333A>G | NCBI36 |
| NG_021216.1:g.17199A>G , LRG_621:g.17199A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005475.3:c.1A>G MANE Select | NP_005466.1:p.Met1Val |
| ENST00000341259.7:c.1A>G MANE Select | ENSP00000345492.2:p.Met1Val |
| NM_005475.2:c.1A>G , LRG_621t1:c.1A>G | NP_005466.1:p.Met1Val |
| ENST00000341259.6:c.1A>G | ENSP00000345492.2:p.Met1Val |
| XM_005253818.3:c.1A>G | XP_005253875.1:p.Met1Val |
| XM_005253818.4:c.1A>G | XP_005253875.1:p.Met1Val |
| XM_005253819.3:c.1A>G | XP_005253876.1:p.Met1Val |
| XM_005253819.4:c.1A>G | XP_005253876.1:p.Met1Val |
| XM_011537719.1:c.1A>G | XP_011536021.1:p.Met1Val |
| XM_011537719.2:c.1A>G | XP_011536021.1:p.Met1Val |
| XM_011537720.1:c.1A>G | XP_011536022.1:p.Met1Val |
| XM_011537720.3:c.1A>G | XP_011536022.1:p.Met1Val |
| XM_011537722.1:c.1A>G | XP_011536024.1:p.Met1Val |
| XM_024448790.1:c.1A>G | XP_024304558.1:p.Met1Val |
| XR_001748535.1:n.402A>G | |
| XR_001748536.1:n.401A>G | |
| XR_002957278.1:n.398A>G |