Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651972G>C , CM000674.2:g.52651972G>C | GRCh38 |
| NC_000012.11:g.53045756G>C , CM000674.1:g.53045756G>C | GRCh37 |
| NC_000012.10:g.51332023G>C | NCBI36 |
| NG_008296.1:g.5204C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.171C>G MANE Select | ENSP00000310861.3:p.Gly57= | |
| ENST00000309680.3:c.171C>G | ENSP00000310861.3:p.Gly57= | |
| NM_000423.2:c.171C>G | NP_000414.2:p.Gly57= | |
| NM_000423.3:c.171C>G MANE Select | NP_000414.2:p.Gly57= |