HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6722624C>T , CM000681.2:g.6722624C>T | GRCh38 |
NC_000019.9:g.6722635C>T , CM000681.1:g.6722635C>T | GRCh37 |
NC_000019.8:g.6673635C>T | NCBI36 |
NG_009557.1:g.3028G>A , LRG_27:g.3028G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000600744.1:c.-50+817G>A | ENSP00000472044.1:n.-50+817G>A |