HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122460969A>C , CM000672.2:g.122460969A>C | GRCh38 |
NC_000010.10:g.124220485A>C , CM000672.1:g.124220485A>C | GRCh37 |
NC_000010.9:g.124210475A>C | NCBI36 |
NG_011554.1:g.4445A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648167.1:c.154+2260A>C | ENSP00000498033.1:n.154+2260A>C | |
XR_946382.1:n.390T>G | ||
XR_946383.1:n.390T>G | ||
XR_946384.1:n.390T>G | ||
XR_946385.1:n.390T>G | ||
XR_946382.2:n.418T>G | ||
XR_946383.2:n.418T>G | ||
XR_946384.2:n.394T>G | ||
XR_946385.2:n.418T>G |