Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126304285C>G , CM000673.2:g.126304285C>G | GRCh38 |
| NC_000011.9:g.126174180C>G , CM000673.1:g.126174180C>G | GRCh37 |
| NC_000011.8:g.125679390C>G | NCBI36 |
| NG_053153.1:g.5985C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014026.6:c.201+4C>G MANE Select | NP_054745.1:n.201+4C>G |
| ENST00000263579.5:c.201+4C>G MANE Select | ENSP00000263579.4:n.201+4C>G |
| NM_001350236.1:c.205C>G | NP_001337165.1:p.Pro69Ala |
| NM_001350236.2:c.205C>G | NP_001337165.1:p.Pro69Ala |
| NM_014026.4:c.201+4C>G | NP_054745.1:n.201+4C>G |
| NM_014026.5:c.201+4C>G | NP_054745.1:n.201+4C>G |
| ENST00000263579.4:c.201+4C>G | ENSP00000263579.4:n.201+4C>G |
| XM_011542778.1:c.205C>G | XP_011541080.1:p.Pro69Ala |