HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101348595C>T , CM000685.2:g.101348595C>T | GRCh38 |
NC_000023.10:g.100603583C>T , CM000685.1:g.100603583C>T | GRCh37 |
NC_000023.9:g.100490239C>T | NCBI36 |
NG_009616.1:g.42630G>A , LRG_128:g.42630G>A | |
NG_011734.1:g.5375G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372902.4:c.70G>A MANE Select | ENSP00000361993.3:p.Glu24Lys | |
ENST00000644112.2:c.70G>A | ENSP00000494385.1:p.Glu24Lys | |
ENST00000645279.1:c.70G>A | ENSP00000494239.1:p.Glu24Lys | |
ENST00000372902.3:c.70G>A | ENSP00000361993.3:p.Glu24Lys | |
ENST00000480575.1:n.155G>A | ||
NM_001145951.1:c.70G>A | NP_001139423.1:p.Glu24Lys | |
NM_004085.3:c.70G>A | NP_004076.1:p.Glu24Lys | |
NM_004085.4:c.70G>A MANE Select | NP_004076.1:p.Glu24Lys | |
NM_001145951.2:c.70G>A | NP_001139423.1:p.Glu24Lys |