Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22823980A>G , CM000677.2:g.22823980A>G | GRCh38 |
| NC_000015.9:g.23049088T>C , CM000677.1:g.23049088T>C | GRCh37 |
| NC_000015.8:g.20600529T>C | NCBI36 |
| NG_009056.1:g.42756A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144599.5:c.731A>G MANE Select | NP_653200.2:p.Gln244Arg |
| ENST00000337435.9:c.731A>G MANE Select | ENSP00000337452.4:p.Gln244Arg |
| NM_001142275.1:c.506A>G | NP_001135747.1:p.Gln169Arg |
| NM_144599.4:c.731A>G | NP_653200.2:p.Gln244Arg |
| ENST00000337435.8:c.731A>G | ENSP00000337452.4:p.Gln244Arg |
| ENST00000437912.6:c.506A>G | ENSP00000393962.2:p.Gln169Arg |
| ENST00000559448.5:c.703A>G | |
| ENST00000561183.5:c.506A>G | ENSP00000453722.1:p.Gln169Arg |