Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48451164G>A , CM000681.2:g.48451164G>A | GRCh38 |
| NC_000019.9:g.48954421G>A , CM000681.1:g.48954421G>A | GRCh37 |
| NC_000019.8:g.53646233G>A | NCBI36 |
| NG_046925.1:g.10392G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253237.10:c.956G>A MANE Select | ENSP00000253237.4:p.Arg319Gln | |
| ENST00000253237.9:c.956G>A | ENSP00000253237.4:p.Arg319Gln | |
| ENST00000598711.1:c.647G>A | ENSP00000468943.1:p.Arg216Gln | |
| NM_031485.3:c.956G>A | NP_113673.3:p.Arg319Gln | |
| NM_031485.4:c.956G>A MANE Select | NP_113673.3:p.Arg319Gln |