HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37715923A>G , CM000684.2:g.37715923A>G | GRCh38 |
NC_000022.10:g.38111930A>G , CM000684.1:g.38111930A>G | GRCh37 |
NC_000022.9:g.36441876A>G | NCBI36 |
NG_012857.1:g.23936A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.617A>G MANE Select | ENSP00000496394.1:p.Gln206Arg | |
ENST00000344404.10:c.*100A>G | ENSP00000340312.6:n.*100A>G | |
ENST00000406386.7:c.617A>G | ENSP00000384312.3:p.Gln206Arg | |
ENST00000455236.4:c.1574A>G | ENSP00000477208.1:n.1574A>G | |
ENST00000492485.5:n.551A>G | ||
NM_001039141.2:c.617A>G | NP_001034230.1:p.Gln206Arg | |
NM_001039141.3:c.617A>G MANE Select | NP_001034230.1:p.Gln206Arg |