HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101348542T>G , CM000685.2:g.101348542T>G | GRCh38 |
NC_000023.10:g.100603530T>G , CM000685.1:g.100603530T>G | GRCh37 |
NC_000023.9:g.100490186T>G | NCBI36 |
NG_009616.1:g.42683A>C , LRG_128:g.42683A>C | |
NG_011734.1:g.5428A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372902.4:c.123A>C MANE Select | ENSP00000361993.3:p.Glu41Asp | |
ENST00000644112.2:c.123A>C | ENSP00000494385.1:p.Glu41Asp | |
ENST00000645279.1:c.123A>C | ENSP00000494239.1:p.Glu41Asp | |
ENST00000647480.1:n.34A>C | ||
ENST00000372902.3:c.123A>C | ENSP00000361993.3:p.Glu41Asp | |
ENST00000480575.1:n.208A>C | ||
NM_001145951.1:c.123A>C | NP_001139423.1:p.Glu41Asp | |
NM_004085.3:c.123A>C | NP_004076.1:p.Glu41Asp | |
NM_004085.4:c.123A>C MANE Select | NP_004076.1:p.Glu41Asp | |
NM_001145951.2:c.123A>C | NP_001139423.1:p.Glu41Asp |