HGVS | Genome Assembly |
---|---|
NC_000021.9:g.35641382C>A , CM000683.2:g.35641382C>A | GRCh38 |
NC_000021.8:g.37013680C>A , CM000683.1:g.37013680C>A | GRCh37 |
NC_000021.7:g.35935550C>A | NCBI36 |
NG_011402.2:g.348329G>T , LRG_482:g.348329G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000475045.6:c.-532+13438G>T | ENSP00000477072.1:n.-532+13438G>T |