Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028038C>T , CM000666.2:g.52028038C>T | GRCh38 |
| NC_000004.11:g.52894204C>T , CM000666.1:g.52894204C>T | GRCh37 |
| NC_000004.10:g.52588961C>T | NCBI36 |
| NG_008891.1:g.15282G>A , LRG_204:g.15282G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.683G>A MANE Select | NP_000223.1:p.Gly228Glu |
| ENST00000381431.10:c.683G>A MANE Select | ENSP00000370839.6:p.Gly228Glu |
| NM_000232.4:c.683G>A , LRG_204t1:c.683G>A | NP_000223.1:p.Gly228Glu |
| ENST00000381431.9:c.683G>A | ENSP00000370839.5:p.Gly228Glu |
| XM_006714049.2:c.386G>A | XP_006714112.1:p.Gly129Glu |
| XM_011534403.1:c.473G>A | XP_011532705.1:p.Gly158Glu |
| XM_011534404.1:c.386G>A | XP_011532706.1:p.Gly129Glu |