HGVS | Genome Assembly |
---|---|
NC_000003.12:g.185968936A>T , CM000665.2:g.185968936A>T | GRCh38 |
NC_000003.11:g.185686725A>T , CM000665.1:g.185686725A>T | GRCh37 |
NC_000003.10:g.187169419A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306399.3:n.270+228A>T | ||
ENST00000416764.5:n.349+219A>T | ||
ENST00000422108.5:n.288+287A>T | ||
ENST00000423298.5:n.137-2679A>T | ||
ENST00000436375.5:n.342+228A>T | ||
ENST00000445507.1:n.279+287A>T | ||
NR_033752.2:n.349+219A>T | ||
NR_151491.1:n.137-2679A>T |