HGVS | Genome Assembly |
---|---|
NC_000007.14:g.116525105G>A , CM000669.2:g.116525105G>A | GRCh38 |
NC_000007.13:g.116165159G>A , CM000669.1:g.116165159G>A | GRCh37 |
NC_000007.12:g.115952395G>A | NCBI36 |
NG_012051.1:g.5321G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000341049.7:c.30+13G>A MANE Select | ENSP00000339191.2:n.30+13G>A | |
ENST00000614113.5:c.30+13G>A | ENSP00000479447.2:n.30+13G>A | |
ENST00000341049.6:c.30+13G>A | ENSP00000339191.2:n.30+13G>A | |
ENST00000393470.1:c.30+13G>A | ENSP00000377113.1:n.30+13G>A | |
ENST00000451122.5:c.43G>A | ENSP00000409541.1:p.Gly15Arg | |
ENST00000489856.1:n.81+13G>A | ||
ENST00000614113.4:c.-764G>A | ENSP00000479447.1:n.-764G>A | |
NM_001172895.1:c.-764G>A | NP_001166366.1:n.-764G>A | |
NM_001753.4:c.30+13G>A | NP_001744.2:n.30+13G>A | |
NM_001753.5:c.30+13G>A MANE Select | NP_001744.2:n.30+13G>A |