Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34632750G>A , CM000679.2:g.34632750G>A | GRCh38 |
| NC_000017.10:g.32959769G>A , CM000679.1:g.32959769G>A | GRCh37 |
| NC_000017.9:g.29983882G>A | NCBI36 |
| NG_054730.1:g.57002G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001304438.2:c.1529G>A MANE Select | NP_001291367.1:p.Arg510Gln |
| ENST00000631683.2:c.1529G>A MANE Select | ENSP00000487800.2:p.Arg510Gln |
| NM_001304438.1:c.1529G>A | NP_001291367.1:p.Arg510Gln |
| ENST00000321639.6:c.1259G>A | ENSP00000316532.5:p.Arg420Gln |
| ENST00000321639.7:c.1259G>A | ENSP00000316532.5:p.Arg420Gln |
| ENST00000631683.1:c.1529G>A | ENSP00000487800.1:p.Arg510Gln |
| XM_011524312.1:c.1481G>A | XP_011522614.1:p.Arg494Gln |
| XM_011524313.1:c.647G>A | XP_011522615.1:p.Arg216Gln |