Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71938862C>G , CM000674.2:g.71938862C>G | GRCh38 |
| NC_000012.11:g.72332642C>G , CM000674.1:g.72332642C>G | GRCh37 |
| NC_000012.10:g.70618909C>G | NCBI36 |
| NG_008279.1:g.5017C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333850.4:c.-125C>G MANE Select | ENSP00000329093.3:n.-125C>G | |
| ENST00000333850.3:c.-125C>G | ENSP00000329093.3:n.-125C>G | |
| NM_173353.3:c.-125C>G | NP_775489.2:n.-125C>G | |
| NM_173353.4:c.-125C>G MANE Select | NP_775489.2:n.-125C>G |