Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95247696T>C , CM000670.2:g.95247696T>C | GRCh38 |
| NC_000008.10:g.96259924T>C , CM000670.1:g.96259924T>C | GRCh37 |
| NC_000008.9:g.96329100T>C | NCBI36 |
| NG_032804.1:g.26539A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286688.6:c.545A>G MANE Select | ENSP00000286688.5:p.Gln182Arg | |
| ENST00000286688.5:c.545A>G | ENSP00000286688.5:p.Gln182Arg | |
| NM_177965.3:c.545A>G | NP_808880.1:p.Gln182Arg | |
| XM_005250799.2:c.788A>G | XP_005250856.2:p.Gln263Arg | |
| NM_001363260.1:c.449A>G | NP_001350189.1:p.Gln150Arg | |
| NM_177965.4:c.545A>G MANE Select | NP_808880.1:p.Gln182Arg |