Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093579A>G , CM000664.2:g.176093579A>G | GRCh38 |
| NC_000002.11:g.176958307A>G , CM000664.1:g.176958307A>G | GRCh37 |
| NC_000002.10:g.176666553A>G | NCBI36 |
| NG_008137.1:g.5776A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.689A>G MANE Select | ENSP00000376322.3:p.Gln230Arg | |
| ENST00000392539.3:c.689A>G | ENSP00000376322.3:p.Gln230Arg | |
| NM_000523.3:c.689A>G | NP_000514.2:p.Gln230Arg | |
| XM_011511068.1:c.725-901A>G | XP_011509370.1:n.725-901A>G | |
| XM_011511068.2:c.725-901A>G | XP_011509370.1:n.725-901A>G | |
| NM_000523.4:c.689A>G MANE Select | NP_000514.2:p.Gln230Arg |