Linked Data
ClinVar Variation Id:
347010
dbSNP Id:
rs569667113
ExAC:
4:100485282 G / A
gnomAD v2:
4-100485282-G-A
gnomAD v3:
4-99564125-G-A
gnomAD v4:
4-99564125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99564125G>A , CM000666.2:g.99564125G>A | GRCh38 |
| NC_000004.11:g.100485282G>A , CM000666.1:g.100485282G>A | GRCh37 |
| NC_000004.10:g.100704305G>A | NCBI36 |
| NG_011469.1:g.5043G>A | |
| NG_041774.1:g.4933C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457717.6:c.-214G>A | ENSP00000400821.1:n.-214G>A | |
| ENST00000505094.6:c.-463G>A | ENSP00000422782.2:n.-463G>A | |
| ENST00000511045.6:c.-301G>A | ENSP00000427679.2:n.-301G>A | |
| ENST00000511610.6:c.-380G>A | ENSP00000422178.2:n.-380G>A | |
| ENST00000457717.5:c.-214G>A | ENSP00000400821.1:n.-214G>A | |
| ENST00000504724.1:c.30G>A | ENSP00000422667.1:p.Gly10= | |
| ENST00000505094.5:c.30G>A | ENSP00000422782.1:p.Gly10= | |
| ENST00000505142.5:c.91+194G>A | ENSP00000425987.1:n.91+194G>A | |
| ENST00000506883.5:c.91+194G>A | ENSP00000426755.1:n.91+194G>A | |
| ENST00000511045.5:c.30G>A | ENSP00000427679.1:p.Gly10= | |
| ENST00000511610.5:c.30G>A | ENSP00000422178.1:p.Gly10= | |
| ENST00000513404.5:c.91+194G>A | ENSP00000424972.1:n.91+194G>A | |
| ENST00000515141.5:c.30G>A | ENSP00000425642.1:p.Gly10= | |
| NM_000253.3:c.-214G>A | NP_000244.2:n.-214G>A | |
| NM_001300785.1:c.30G>A | NP_001287714.1:p.Gly10= |