HGVS | Genome Assembly |
---|---|
NC_000003.12:g.185968921G>C , CM000665.2:g.185968921G>C | GRCh38 |
NC_000003.11:g.185686710G>C , CM000665.1:g.185686710G>C | GRCh37 |
NC_000003.10:g.187169404G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306399.3:n.270+213G>C | ||
ENST00000416764.5:n.349+204G>C | ||
ENST00000422108.5:n.288+272G>C | ||
ENST00000423298.5:n.137-2694G>C | ||
ENST00000436375.5:n.342+213G>C | ||
ENST00000445507.1:n.279+272G>C | ||
NR_033752.2:n.349+204G>C | ||
NR_151491.1:n.137-2694G>C |