HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101348565G>C , CM000685.2:g.101348565G>C | GRCh38 |
NC_000023.10:g.100603553G>C , CM000685.1:g.100603553G>C | GRCh37 |
NC_000023.9:g.100490209G>C | NCBI36 |
NG_009616.1:g.42660C>G , LRG_128:g.42660C>G | |
NG_011734.1:g.5405C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372902.4:c.100C>G MANE Select | ENSP00000361993.3:p.Gln34Glu | |
ENST00000644112.2:c.100C>G | ENSP00000494385.1:p.Gln34Glu | |
ENST00000645279.1:c.100C>G | ENSP00000494239.1:p.Gln34Glu | |
ENST00000647480.1:n.11C>G | ||
ENST00000372902.3:c.100C>G | ENSP00000361993.3:p.Gln34Glu | |
ENST00000480575.1:n.185C>G | ||
NM_001145951.1:c.100C>G | NP_001139423.1:p.Gln34Glu | |
NM_004085.3:c.100C>G | NP_004076.1:p.Gln34Glu | |
NM_004085.4:c.100C>G MANE Select | NP_004076.1:p.Gln34Glu | |
NM_001145951.2:c.100C>G | NP_001139423.1:p.Gln34Glu |