Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71813566C>G , CM000677.2:g.71813566C>G | GRCh38 |
| NC_000015.9:g.72105906C>G , CM000677.1:g.72105906C>G | GRCh37 |
| NC_000015.8:g.69892960C>G | NCBI36 |
| NG_009113.2:g.8012C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014249.4:c.925C>G MANE Select | NP_055064.1:p.Arg309Gly |
| ENST00000617575.5:c.925C>G MANE Select | ENSP00000482504.1:p.Arg309Gly |
| NM_014249.3:c.925C>G | NP_055064.1:p.Arg309Gly |
| NM_016346.3:c.925C>G | NP_057430.1:p.Arg309Gly |
| NM_016346.4:c.925C>G | NP_057430.1:p.Arg309Gly |
| ENST00000617575.4:c.925C>G | ENSP00000482504.1:p.Arg309Gly |
| ENST00000621098.1:c.925C>G | ENSP00000479962.1:p.Arg309Gly |
| ENST00000621736.4:c.661C>G | ENSP00000479254.1:p.Arg221Gly |
| XM_011521146.1:c.661C>G | XP_011519448.1:p.Arg221Gly |