HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101348571A>G , CM000685.2:g.101348571A>G | GRCh38 |
NC_000023.10:g.100603559A>G , CM000685.1:g.100603559A>G | GRCh37 |
NC_000023.9:g.100490215A>G | NCBI36 |
NG_009616.1:g.42654T>C , LRG_128:g.42654T>C | |
NG_011734.1:g.5399T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372902.4:c.94T>C MANE Select | ENSP00000361993.3:p.Phe32Leu | |
ENST00000644112.2:c.94T>C | ENSP00000494385.1:p.Phe32Leu | |
ENST00000645279.1:c.94T>C | ENSP00000494239.1:p.Phe32Leu | |
ENST00000647480.1:n.5T>C | ||
ENST00000372902.3:c.94T>C | ENSP00000361993.3:p.Phe32Leu | |
ENST00000480575.1:n.179T>C | ||
NM_001145951.1:c.94T>C | NP_001139423.1:p.Phe32Leu | |
NM_004085.3:c.94T>C | NP_004076.1:p.Phe32Leu | |
NM_004085.4:c.94T>C MANE Select | NP_004076.1:p.Phe32Leu | |
NM_001145951.2:c.94T>C | NP_001139423.1:p.Phe32Leu |