Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40936645G>A , CM000677.2:g.40936645G>A | GRCh38 |
| NC_000015.9:g.41228843G>A , CM000677.1:g.41228843G>A | GRCh37 |
| NC_000015.8:g.39016135G>A | NCBI36 |
| NG_046974.1:g.12313G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.1658G>A MANE Select | ENSP00000249749.5:p.Arg553Gln | |
| ENST00000249749.6:c.1658G>A | ENSP00000249749.5:p.Arg553Gln | |
| NM_019074.3:c.1658G>A | NP_061947.1:p.Arg553Gln | |
| NM_019074.4:c.1658G>A MANE Select | NP_061947.1:p.Arg553Gln |