HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101348610A>G , CM000685.2:g.101348610A>G | GRCh38 |
NC_000023.10:g.100603598A>G , CM000685.1:g.100603598A>G | GRCh37 |
NC_000023.9:g.100490254A>G | NCBI36 |
NG_009616.1:g.42615T>C , LRG_128:g.42615T>C | |
NG_011734.1:g.5360T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372902.4:c.55T>C MANE Select | ENSP00000361993.3:p.Leu19= | |
ENST00000644112.2:c.55T>C | ENSP00000494385.1:p.Leu19= | |
ENST00000645279.1:c.55T>C | ENSP00000494239.1:p.Leu19= | |
ENST00000372902.3:c.55T>C | ENSP00000361993.3:p.Leu19= | |
ENST00000480575.1:n.140T>C | ||
NM_001145951.1:c.55T>C | NP_001139423.1:p.Leu19= | |
NM_004085.3:c.55T>C | NP_004076.1:p.Leu19= | |
NM_004085.4:c.55T>C MANE Select | NP_004076.1:p.Leu19= | |
NM_001145951.2:c.55T>C | NP_001139423.1:p.Leu19= |