HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060799T>G , CM000681.2:g.49060799T>G | GRCh38 |
NC_000019.9:g.49564056T>G , CM000681.1:g.49564056T>G | GRCh37 |
NC_000019.8:g.54255868T>G | NCBI36 |
NG_016289.1:g.8069A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000599795.5:c.243+956A>C | ENSP00000470689.1:n.243+956A>C | |
XM_011527575.1:c.-47A>C | XP_011525877.1:n.-47A>C | |
XR_001753693.1:n.879+365A>C | ||
XR_001753694.1:n.890A>C |