HGVS | Genome Assembly |
---|---|
NC_000003.12:g.185969213G>A , CM000665.2:g.185969213G>A | GRCh38 |
NC_000003.11:g.185687002G>A , CM000665.1:g.185687002G>A | GRCh37 |
NC_000003.10:g.187169696G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306399.3:n.270+505G>A | ||
ENST00000416764.5:n.349+496G>A | ||
ENST00000422108.5:n.288+564G>A | ||
ENST00000423298.5:n.137-2402G>A | ||
ENST00000436375.5:n.342+505G>A | ||
ENST00000445507.1:n.279+564G>A | ||
NR_033752.2:n.349+496G>A | ||
NR_151491.1:n.137-2402G>A |