HGVS | Genome Assembly |
---|---|
NC_000001.11:g.147773290G>A , CM000663.2:g.147773290G>A | GRCh38 |
NC_000001.10:g.147245394G>A , CM000663.1:g.147245394G>A | GRCh37 |
NC_000001.9:g.145712018G>A | NCBI36 |
NG_009369.2:g.5085C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000430508.1:c.-72C>T | ENSP00000407645.1:n.-72C>T | |
ENST00000621517.1:c.-72C>T | ENSP00000484552.1:n.-72C>T | |
NM_005266.6:c.-72C>T | NP_005257.2:n.-72C>T | |
XM_005272951.3:c.-34+7377C>T | XP_005273008.1:n.-34+7377C>T | |
XM_011509415.1:c.-2217C>T | XP_011507717.1:n.-2217C>T | |
XR_922078.1:n.434-4271G>A | ||
XR_922079.1:n.434-4271G>A | ||
XM_005272951.4:c.-34+7377C>T | XP_005273008.1:n.-34+7377C>T | |
XM_017001044.1:c.-2058C>T | XP_016856533.1:n.-2058C>T | |
XR_922079.3:n.744-4271G>A | ||
NM_005266.7:c.-72C>T | NP_005257.2:n.-72C>T |