Linked Data
ClinVar Variation Id:
2392324
ClinVar RCV Id:
RCV004227775
dbSNP Id:
rs769594181
ExAC:
16:67226982 G / A
gnomAD v2:
16-67226982-G-A
gnomAD v3:
16-67193079-G-A
gnomAD v4:
16-67193079-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67193079G>A , CM000678.2:g.67193079G>A | GRCh38 |
| NC_000016.9:g.67226982G>A , CM000678.1:g.67226982G>A | GRCh37 |
| NC_000016.8:g.65784483G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379378.8:c.316G>A MANE Select | ENSP00000368686.3:p.Glu106Lys | |
| ENST00000379378.7:c.316G>A | ENSP00000368686.3:p.Glu106Lys | |
| ENST00000561904.5:n.467G>A | ||
| ENST00000563238.5:n.331G>A | ||
| ENST00000564718.1:n.351G>A | ||
| ENST00000565849.5:c.*24G>A | ENSP00000454477.1:n.*24G>A | |
| ENST00000567007.5:n.895G>A | ||
| ENST00000568485.1:n.508G>A | ||
| ENST00000568839.5:c.245+209G>A | ENSP00000458082.1:n.245+209G>A | |
| ENST00000569573.1:c.245+209G>A | ENSP00000457239.1:n.245+209G>A | |
| NM_001950.3:c.316G>A | NP_001941.2:p.Glu106Lys | |
| XR_002957786.1:n.384G>A | ||
| NM_001950.4:c.316G>A MANE Select | NP_001941.2:p.Glu106Lys |