HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12663249G>T , CM000686.2:g.12663249G>T | GRCh38 |
NC_000024.9:g.14775180G>T , CM000686.1:g.14775180G>T | GRCh37 |
NC_000024.8:g.13284574G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000417071.1:n.170+543G>T | ||
ENST00000440408.5:n.373+543G>T | ||
ENST00000457658.6:n.1004+543G>T (USP9Y) | ||
ENST00000651177.1:c.-248+543G>T (USP9Y) | ENSP00000498372.1:n.-248+543G>T | |
NR_001545.2:n.340+543G>T (TTTY15) | ||
XR_938612.1:n.490+55C>A | ||
XR_938613.1:n.433+112C>A | ||
XR_002958838.1:n.660+55C>A | ||
XR_002958839.1:n.603+112C>A | ||
NR_001545.3:n.355+543G>T (TTTY15) | ||
NR_174085.1:n.355+543G>T (TTTY15) | ||
NR_174086.1:n.355+543G>T (TTTY15) | ||
NR_174087.1:n.355+543G>T (TTTY15) | ||
NR_174088.1:n.355+543G>T (TTTY15) |