HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101348535A>T , CM000685.2:g.101348535A>T | GRCh38 |
NC_000023.10:g.100603523A>T , CM000685.1:g.100603523A>T | GRCh37 |
NC_000023.9:g.100490179A>T | NCBI36 |
NG_009616.1:g.42690T>A , LRG_128:g.42690T>A | |
NG_011734.1:g.5435T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372902.4:c.130T>A MANE Select | ENSP00000361993.3:p.Trp44Arg | |
ENST00000644112.2:c.130T>A | ENSP00000494385.1:p.Trp44Arg | |
ENST00000645279.1:c.130T>A | ENSP00000494239.1:p.Trp44Arg | |
ENST00000647480.1:n.41T>A | ||
ENST00000372902.3:c.130T>A | ENSP00000361993.3:p.Trp44Arg | |
ENST00000480575.1:n.215T>A | ||
NM_001145951.1:c.130T>A | NP_001139423.1:p.Trp44Arg | |
NM_004085.3:c.130T>A | NP_004076.1:p.Trp44Arg | |
NM_004085.4:c.130T>A MANE Select | NP_004076.1:p.Trp44Arg | |
NM_001145951.2:c.130T>A | NP_001139423.1:p.Trp44Arg |