HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122459759C>G , CM000672.2:g.122459759C>G | GRCh38 |
NC_000010.10:g.124219275C>G , CM000672.1:g.124219275C>G | GRCh37 |
NC_000010.9:g.124209265C>G | NCBI36 |
NG_011554.1:g.3235C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648167.1:c.154+1050C>G | ENSP00000498033.1:n.154+1050C>G | |
XR_946382.1:n.563G>C | ||
XR_946383.1:n.563G>C | ||
XR_946384.1:n.563G>C | ||
XR_946385.1:n.563G>C | ||
XR_946382.2:n.591G>C | ||
XR_946383.2:n.591G>C | ||
XR_946384.2:n.567G>C | ||
XR_946385.2:n.591G>C |