HGVS | Genome Assembly |
---|---|
NC_000001.11:g.16027432C>G , CM000663.2:g.16027432C>G | GRCh38 |
NC_000001.10:g.16353927C>G , CM000663.1:g.16353927C>G | GRCh37 |
NC_000001.9:g.16226514C>G | NCBI36 |
NG_009359.1:g.10442C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331433.5:c.778C>G MANE Select | ENSP00000332771.4:p.Gln260Glu | |
ENST00000331433.4:c.778C>G | ENSP00000332771.4:p.Gln260Glu | |
ENST00000375692.5:c.778C>G | ENSP00000364844.1:p.Gln260Glu | |
ENST00000439316.6:c.649C>G | ENSP00000414445.2:p.Gln217Glu | |
ENST00000464764.5:n.1341C>G | ||
ENST00000491433.1:n.194C>G | ||
NM_001042704.1:c.778C>G | NP_001036169.1:p.Gln260Glu | |
NM_001257139.1:c.649C>G | NP_001244068.1:p.Gln217Glu | |
NM_004070.3:c.778C>G | NP_004061.3:p.Gln260Glu | |
NM_004070.4:c.778C>G MANE Select | NP_004061.3:p.Gln260Glu | |
NM_001042704.2:c.778C>G | NP_001036169.1:p.Gln260Glu | |
NM_001257139.2:c.649C>G | NP_001244068.1:p.Gln217Glu |