Linked Data
ClinVar Variation Id:
289624
dbSNP Id:
rs56291926
ExAC:
4:79387365 G / A
gnomAD v2:
4-79387365-G-A
gnomAD v3:
4-78466211-G-A
gnomAD v4:
4-78466211-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78466211G>A , CM000666.2:g.78466211G>A | GRCh38 |
| NC_000004.11:g.79387365G>A , CM000666.1:g.79387365G>A | GRCh37 |
| NC_000004.10:g.79606389G>A | NCBI36 |
| NG_015812.1:g.413642G>A | |
| NG_015812.2:g.413642G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.7033G>A | ENSP00000508201.1:p.Glu2345Lys | |
| ENST00000512123.4:c.7033G>A MANE Select | ENSP00000422834.2:p.Glu2345Lys | |
| ENST00000512123.3:c.7033G>A | ENSP00000422834.2:p.Glu2345Lys | |
| NM_025074.6:c.7033G>A | NP_079350.5:p.Glu2345Lys | |
| XM_006714314.1:c.7027G>A | XP_006714377.1:p.Glu2343Lys | |
| XM_006714316.1:c.7029+1628G>A | XP_006714379.1:n.7029+1628G>A | |
| XM_011532270.1:c.4732G>A | XP_011530572.1:p.Glu1578Lys | |
| XM_011532271.1:c.1921G>A | XP_011530573.1:p.Glu641Lys | |
| XM_006714316.3:c.7029+1628G>A | XP_006714379.1:n.7029+1628G>A | |
| NM_025074.7:c.7033G>A MANE Select | NP_079350.5:p.Glu2345Lys |