HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75985795T>G , CM000676.2:g.75985795T>G | GRCh38 |
NC_000014.8:g.76452138T>G , CM000676.1:g.76452138T>G | GRCh37 |
NC_000014.7:g.75521891T>G | NCBI36 |
NG_011715.1:g.955A>C , LRG_399:g.955A>C | |
NG_031957.1:g.5043T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000314067.11:c.9T>G MANE Select | ENSP00000324177.6:p.Asp3Glu | |
ENST00000679083.1:c.-238T>G | ENSP00000504736.1:n.-238T>G | |
ENST00000238628.10:c.9T>G | ENSP00000238628.6:p.Asp3Glu | |
ENST00000314067.10:c.9T>G | ENSP00000324177.6:p.Asp3Glu | |
ENST00000542766.5:c.9T>G | ENSP00000440064.1:p.Asp3Glu | |
ENST00000553338.1:n.2T>G | ||
ENST00000554026.5:n.16T>G | ||
ENST00000555305.5:n.16T>G | ||
ENST00000555370.5:c.9T>G | ENSP00000452051.1:p.Asp3Glu | |
ENST00000555677.5:n.90-3090T>G | ||
ENST00000556742.1:c.9T>G | ENSP00000451096.1:p.Asp3Glu | |
NM_001102564.1:c.9T>G | NP_001096034.1:p.Asp3Glu | |
NM_001255995.1:c.9T>G | NP_001242924.1:p.Asp3Glu | |
NM_052873.2:c.9T>G | NP_443105.2:p.Asp3Glu | |
NR_045664.1:n.43T>G | ||
NR_045665.1:n.43T>G | ||
NM_001102564.2:c.9T>G | NP_001096034.1:p.Asp3Glu | |
NM_001255995.2:c.9T>G | NP_001242924.1:p.Asp3Glu | |
NM_052873.3:c.9T>G | NP_443105.2:p.Asp3Glu | |
NM_001102564.3:c.9T>G MANE Select | NP_001096034.1:p.Asp3Glu | |
NM_001255995.3:c.9T>G | NP_001242924.1:p.Asp3Glu | |
NR_045664.2:n.33T>G | ||
NR_045665.2:n.33T>G |