HGVS | Genome Assembly |
---|---|
NC_000011.10:g.117832079A>G , CM000673.2:g.117832079A>G | GRCh38 |
NC_000011.9:g.117702794A>G , CM000673.1:g.117702794A>G | GRCh37 |
NC_000011.8:g.117208004A>G | NCBI36 |
NG_011543.1:g.1014T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000532984.1:c.272+7702T>C | ENSP00000463024.1:n.272+7702T>C | |
ENST00000614497.5:c.259+7702T>C | ENSP00000482442.1:n.259+7702T>C | |
NM_001204268.1:c.259+7702T>C | NP_001191197.1:n.259+7702T>C | |
NM_001243598.2:c.272+7702T>C | NP_001230527.1:n.272+7702T>C | |
NM_001204268.2:c.259+7702T>C | NP_001191197.1:n.259+7702T>C | |
NM_001243598.3:c.272+7702T>C | NP_001230527.1:n.272+7702T>C | |
NM_001204268.3:c.259+7702T>C | NP_001191197.1:n.259+7702T>C | |
NM_001243598.4:c.272+7702T>C | NP_001230527.1:n.272+7702T>C |