HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6722574G>C , CM000681.2:g.6722574G>C | GRCh38 |
NC_000019.9:g.6722585G>C , CM000681.1:g.6722585G>C | GRCh37 |
NC_000019.8:g.6673585G>C | NCBI36 |
NG_009557.1:g.3078C>G , LRG_27:g.3078C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000600744.1:c.-50+867C>G | ENSP00000472044.1:n.-50+867C>G |