HGVS | Genome Assembly |
---|---|
NC_000002.12:g.84441333G>C , CM000664.2:g.84441333G>C | GRCh38 |
NC_000002.11:g.84668457G>C , CM000664.1:g.84668457G>C | GRCh37 |
NC_000002.10:g.84521968G>C | NCBI36 |
NG_016755.1:g.23130C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000393868.7:c.445C>G MANE Select | ENSP00000377446.2:p.Gln149Glu | |
ENST00000651342.1:c.445C>G | ENSP00000498471.1:p.Gln149Glu | |
ENST00000393868.6:c.445C>G | ENSP00000377446.2:p.Gln149Glu | |
ENST00000430989.1:n.485C>G | ||
ENST00000442240.5:c.456C>G | ||
ENST00000483605.5:n.524C>G | ||
ENST00000491642.5:n.617C>G | ||
NM_003849.3:c.445C>G | NP_003840.2:p.Gln149Glu | |
NM_003849.4:c.445C>G MANE Select | NP_003840.2:p.Gln149Glu |