HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060898C>T , CM000681.2:g.49060898C>T | GRCh38 |
NC_000019.9:g.49564155C>T , CM000681.1:g.49564155C>T | GRCh37 |
NC_000019.8:g.54255967C>T | NCBI36 |
NG_016289.1:g.7970G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000599795.5:c.243+857G>A | ENSP00000470689.1:n.243+857G>A | |
XM_011527575.1:c.-146G>A | XP_011525877.1:n.-146G>A | |
XR_001753693.1:n.879+266G>A | ||
XR_001753694.1:n.880-89G>A |