HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42132644C>T , CM000684.2:g.42132644C>T | GRCh38 |
NC_000022.10:g.42528651C>T , CM000684.1:g.42528651C>T | GRCh37 |
NC_000022.9:g.40858595C>T | NCBI36 |
NG_008376.3:g.2348G>A | |
NG_008376.4:g.3167G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000417586.1:n.102C>T | ||
XM_011529967.1:c.-1045-808G>A | XP_011528269.1:n.-1045-808G>A |