HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74718808C>G , CM000667.2:g.74718808C>G | GRCh38 |
NC_000005.9:g.74014633C>G , CM000667.1:g.74014633C>G | GRCh37 |
NC_000005.8:g.74050389C>G | NCBI36 |
NG_009770.1:g.38665C>G | |
NG_009770.2:g.83786C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261416.12:c.1254C>G MANE Select | ENSP00000261416.7:p.Gly418= | |
ENST00000261416.11:c.1254C>G | ENSP00000261416.7:p.Gly418= | |
ENST00000503312.5:c.130C>G | ||
ENST00000504459.5:n.451C>G | ||
ENST00000511181.5:c.579C>G | ENSP00000426285.1:p.Gly193= | |
ENST00000513336.5:c.190C>G | ||
ENST00000513539.1:n.74-101C>G | ||
NM_000521.3:c.1254C>G | NP_000512.1:p.Gly418= | |
NM_001292004.1:c.579C>G | NP_001278933.1:p.Gly193= | |
NM_000521.4:c.1254C>G MANE Select | NP_000512.2:p.Gly418= | |
NM_001292004.2:c.579C>G | NP_001278933.1:p.Gly193= |