Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184936178A>G , CM000664.2:g.184936178A>G | GRCh38 |
| NC_000002.11:g.185800905A>G , CM000664.1:g.185800905A>G | GRCh37 |
| NC_000002.10:g.185509150A>G | NCBI36 |
| NG_046950.1:g.342813A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302277.7:c.782A>G MANE Select | ENSP00000303252.6:p.Gln261Arg | |
| ENST00000302277.6:c.782A>G | ENSP00000303252.6:p.Gln261Arg | |
| ENST00000613975.1:c.527A>G | ENSP00000483032.1:p.Gln176Arg | |
| NM_194250.1:c.782A>G | NP_919226.1:p.Gln261Arg | |
| NM_194250.2:c.782A>G MANE Select | NP_919226.1:p.Gln261Arg |