HGVS | Genome Assembly |
---|---|
NC_000011.10:g.117832047T>C , CM000673.2:g.117832047T>C | GRCh38 |
NC_000011.9:g.117702762T>C , CM000673.1:g.117702762T>C | GRCh37 |
NC_000011.8:g.117207972T>C | NCBI36 |
NG_011543.1:g.1046A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000532984.1:c.272+7734A>G | ENSP00000463024.1:n.272+7734A>G | |
ENST00000614497.5:c.259+7734A>G | ENSP00000482442.1:n.259+7734A>G | |
NM_001204268.1:c.259+7734A>G | NP_001191197.1:n.259+7734A>G | |
NM_001243598.2:c.272+7734A>G | NP_001230527.1:n.272+7734A>G | |
NM_001204268.2:c.259+7734A>G | NP_001191197.1:n.259+7734A>G | |
NM_001243598.3:c.272+7734A>G | NP_001230527.1:n.272+7734A>G | |
NM_001204268.3:c.259+7734A>G | NP_001191197.1:n.259+7734A>G | |
NM_001243598.4:c.272+7734A>G | NP_001230527.1:n.272+7734A>G |