HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88434270G>A , CM000678.2:g.88434270G>A | GRCh38 |
NC_000016.9:g.88500678G>A , CM000678.1:g.88500678G>A | GRCh37 |
NC_000016.8:g.87028179G>A | NCBI36 |
NG_012236.2:g.11800G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000565624.3:c.6800G>A MANE Select | ENSP00000456500.2:p.Arg2267Gln | |
ENST00000437464.1:c.6716G>A | ENSP00000402343.1:p.Arg2239Gln | |
ENST00000565624.1:c.6800G>A | ENSP00000456500.1:p.Arg2267Gln | |
NM_001127464.2:c.6716G>A | NP_001120936.2:p.Arg2239Gln | |
XM_011523386.1:c.6800G>A | XP_011521688.1:p.Arg2267Gln | |
XM_011523387.1:c.6800G>A | XP_011521689.1:p.Arg2267Gln | |
XM_011523388.1:c.6800G>A | XP_011521690.1:p.Arg2267Gln | |
XM_017023784.1:c.6800G>A | XP_016879273.1:p.Arg2267Gln | |
XM_017023785.1:c.6800G>A | XP_016879274.1:p.Arg2267Gln | |
NM_001367624.1:c.6800G>A | NP_001354553.1:p.Arg2267Gln | |
NM_001367624.2:c.6800G>A MANE Select | NP_001354553.1:p.Arg2267Gln |