HGVS | Genome Assembly |
---|---|
NC_000019.10:g.615996A>G , CM000681.2:g.615996A>G | GRCh38 |
NC_000019.9:g.615996A>G , CM000681.1:g.615996A>G | GRCh37 |
NC_000019.8:g.566996A>G | NCBI36 |
NG_023049.1:g.22573T>C | |
NG_052810.1:g.31104A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251287.3:c.2192A>G MANE Select | ENSP00000251287.1:p.Gln731Arg | |
ENST00000251287.2:c.2192A>G | ENSP00000251287.1:p.Gln731Arg | |
NM_001194.3:c.2192A>G | NP_001185.3:p.Gln731Arg | |
NM_001194.4:c.2192A>G MANE Select | NP_001185.3:p.Gln731Arg |