HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12663253A>G , CM000686.2:g.12663253A>G | GRCh38 |
NC_000024.9:g.14775184A>G , CM000686.1:g.14775184A>G | GRCh37 |
NC_000024.8:g.13284578A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000417071.1:n.170+547A>G | ||
ENST00000440408.5:n.373+547A>G | ||
ENST00000457658.6:n.1004+547A>G (USP9Y) | ||
ENST00000651177.1:c.-248+547A>G (USP9Y) | ENSP00000498372.1:n.-248+547A>G | |
NR_001545.2:n.340+547A>G (TTTY15) | ||
XR_938612.1:n.490+51T>C | ||
XR_938613.1:n.433+108T>C | ||
XR_002958838.1:n.660+51T>C | ||
XR_002958839.1:n.603+108T>C | ||
NR_001545.3:n.355+547A>G (TTTY15) | ||
NR_174085.1:n.355+547A>G (TTTY15) | ||
NR_174086.1:n.355+547A>G (TTTY15) | ||
NR_174087.1:n.355+547A>G (TTTY15) | ||
NR_174088.1:n.355+547A>G (TTTY15) |