HGVS | Genome Assembly |
---|---|
NC_000023.11:g.70033521A>G , CM000685.2:g.70033521A>G | GRCh38 |
NC_000023.10:g.69253371A>G , CM000685.1:g.69253371A>G | GRCh37 |
NC_000023.9:g.69170096A>G | NCBI36 |
NG_009809.1:g.422461A>G | |
NG_009809.2:g.422455A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374552.9:c.917A>G MANE Select | ENSP00000363680.4:p.Gln306Arg | |
ENST00000374552.8:c.917A>G | ENSP00000363680.4:p.Gln306Arg | |
ENST00000374553.6:c.917A>G | ENSP00000363681.2:p.Gln306Arg | |
ENST00000524573.5:c.908A>G | ENSP00000432585.1:p.Gln303Arg | |
ENST00000616899.1:c.521A>G | ENSP00000481963.1:p.Gln174Arg | |
NM_001005609.1:c.917A>G | NP_001005609.1:p.Gln306Arg | |
NM_001005612.2:c.908A>G | NP_001005612.2:p.Gln303Arg | |
NM_001399.4:c.917A>G | NP_001390.1:p.Gln306Arg | |
XM_006724630.2:c.908A>G | XP_006724693.1:p.Gln303Arg | |
XM_011530885.1:c.917A>G | XP_011529187.1:p.Gln306Arg | |
XM_011530885.2:c.917A>G | XP_011529187.1:p.Gln306Arg | |
XM_017029336.1:c.882+35A>G | XP_016884825.1:n.882+35A>G | |
NM_001399.5:c.917A>G MANE Select | NP_001390.1:p.Gln306Arg | |
NM_001005609.2:c.917A>G | NP_001005609.1:p.Gln306Arg | |
NM_001005612.3:c.908A>G | NP_001005612.2:p.Gln303Arg |