Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11974693G>A , CM000663.2:g.11974693G>A | GRCh38 |
| NC_000001.10:g.12034750G>A , CM000663.1:g.12034750G>A | GRCh37 |
| NC_000001.9:g.11957337G>A | NCBI36 |
| NG_008159.1:g.45005G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.2069G>A MANE Select | ENSP00000196061.4:p.Arg690Gln | |
| ENST00000196061.4:c.2069G>A | ENSP00000196061.4:p.Arg690Gln | |
| ENST00000481933.1:n.1496G>A | ||
| ENST00000491536.5:n.384-590G>A | ||
| NM_000302.3:c.2069G>A | NP_000293.2:p.Arg690Gln | |
| NM_001316320.1:c.2210G>A | NP_001303249.1:p.Arg737Gln | |
| XM_011541594.1:c.2150G>A | XP_011539896.1:p.Arg717Gln | |
| XM_024447707.1:c.1403G>A | XP_024303475.1:p.Arg468Gln | |
| NM_000302.4:c.2069G>A MANE Select | NP_000293.2:p.Arg690Gln | |
| NM_001316320.2:c.2210G>A | NP_001303249.1:p.Arg737Gln |