HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060861T>G , CM000681.2:g.49060861T>G | GRCh38 |
NC_000019.9:g.49564118T>G , CM000681.1:g.49564118T>G | GRCh37 |
NC_000019.8:g.54255930T>G | NCBI36 |
NG_016289.1:g.8007A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000599795.5:c.243+894A>C | ENSP00000470689.1:n.243+894A>C | |
XM_011527575.1:c.-109A>C | XP_011525877.1:n.-109A>C | |
XR_001753693.1:n.879+303A>C | ||
XR_001753694.1:n.880-52A>C |