Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951872A>G , CM000670.2:g.19951872A>G | GRCh38 |
| NC_000008.10:g.19809383A>G , CM000670.1:g.19809383A>G | GRCh37 |
| NC_000008.9:g.19853663A>G | NCBI36 |
| NG_008855.1:g.17802A>G | |
| NG_008855.2:g.55156A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.353A>G MANE Select | ENSP00000497642.1:p.Gln118Arg | |
| ENST00000311322.8:c.353A>G | ENSP00000309757.6:p.Gln118Arg | |
| ENST00000520959.5:c.125A>G | ENSP00000428496.1:p.Gln42Arg | |
| ENST00000524029.5:c.353A>G | ENSP00000428237.1:p.Gln118Arg | |
| NM_000237.2:c.353A>G | NP_000228.1:p.Gln118Arg | |
| NM_000237.3:c.353A>G MANE Select | NP_000228.1:p.Gln118Arg |