HGVS | Genome Assembly |
---|---|
NC_000015.10:g.78534589T>G , CM000677.2:g.78534589T>G | GRCh38 |
NC_000015.9:g.78826931T>G , CM000677.1:g.78826931T>G | GRCh37 |
NC_000015.8:g.76613986T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000388988.9:c.*919T>G MANE Select | ENSP00000373640.4:n.*919T>G | |
ENST00000408962.6:c.662-2711T>G | ENSP00000386197.2:n.662-2711T>G | |
ENST00000563233.2:c.662-2711T>G | ENSP00000454850.1:n.662-2711T>G | |
ENST00000569878.5:c.2041T>G | ENSP00000455459.1:n.2041T>G | |
NM_001083612.1:c.662-2711T>G | NP_001077081.1:n.662-2711T>G | |
NM_001013619.3:c.*919T>G | NP_001013641.2:n.*919T>G | |
NM_001013619.4:c.*919T>G MANE Select | NP_001013641.2:n.*919T>G | |
NM_001083612.2:c.662-2711T>G | NP_001077081.1:n.662-2711T>G |