Linked Data
ClinVar Variation Id:
444731
dbSNP Id:
rs144546424
ExAC:
7:130023245 G / A
gnomAD v2:
7-130023245-G-A
gnomAD v3:
7-130383404-G-A
gnomAD v4:
7-130383404-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130383404G>A , CM000669.2:g.130383404G>A | GRCh38 |
| NC_000007.13:g.130023245G>A , CM000669.1:g.130023245G>A | GRCh37 |
| NC_000007.12:g.129810481G>A | NCBI36 |
| NG_042276.1:g.8034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000011292.8:c.497G>A MANE Select | ENSP00000011292.3:p.Gly166Asp | |
| ENST00000011292.7:c.497G>A | ENSP00000011292.3:p.Gly166Asp | |
| ENST00000476062.5:c.233G>A | ENSP00000419408.1:p.Gly78Asp | |
| ENST00000481342.5:c.233G>A | ENSP00000420218.1:p.Gly78Asp | |
| ENST00000484324.1:c.233G>A | ENSP00000419497.1:p.Gly78Asp | |
| ENST00000491460.5:n.459G>A | ||
| ENST00000604896.5:c.142-280G>A | ENSP00000475021.1:n.142-280G>A | |
| NM_001868.3:c.497G>A | NP_001859.1:p.Gly166Asp | |
| NM_001868.4:c.497G>A MANE Select | NP_001859.1:p.Gly166Asp |