Linked Data
ClinVar Variation Id:
234335
dbSNP Id:
rs201325845
ExAC:
18:2929124 C / T
gnomAD v2:
18-2929124-C-T
gnomAD v3:
18-2929126-C-T
gnomAD v4:
18-2929126-C-T
COSMIC:
COSM1480292
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2929126C>T , CM000680.2:g.2929126C>T | GRCh38 |
| NC_000018.9:g.2929124C>T , CM000680.1:g.2929124C>T | GRCh37 |
| NC_000018.8:g.2919124C>T | NCBI36 |
| NG_007507.1:g.87822G>A , LRG_174:g.87822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261596.9:c.1489G>A | ENSP00000261596.4:p.Glu497Lys | |
| ENST00000697039.1:c.1489G>A | ENSP00000513061.1:p.Glu497Lys | |
| ENST00000697040.1:c.1489G>A | ENSP00000513062.1:p.Glu497Lys | |
| ENST00000697041.1:c.184G>A | ENSP00000513063.1:p.Glu62Lys | |
| ENST00000697042.1:c.1489G>A | ENSP00000513064.1:p.Glu497Lys | |
| ENST00000677752.1:c.1489G>A MANE Select | ENSP00000504857.1:p.Glu497Lys | |
| ENST00000261596.8:c.1489G>A | ENSP00000261596.4:p.Glu497Lys | |
| NM_014646.2:c.1489G>A , LRG_174t1:c.1489G>A | NP_055461.1:p.Glu497Lys | |
| XM_005258177.3:c.1600G>A | XP_005258234.1:p.Glu534Lys | |
| XM_005258178.2:c.1489G>A | XP_005258235.1:p.Glu497Lys | |
| XM_005258179.3:c.1489G>A | XP_005258236.1:p.Glu497Lys | |
| XR_935074.1:n.1618G>A | ||
| XM_005258177.4:c.1600G>A | XP_005258234.1:p.Glu534Lys | |
| XM_005258178.3:c.1489G>A | XP_005258235.1:p.Glu497Lys | |
| XM_005258179.5:c.1489G>A | XP_005258236.1:p.Glu497Lys | |
| XM_017026098.1:c.1489G>A | XP_016881587.1:p.Glu497Lys | |
| XM_017026099.1:c.1489G>A | XP_016881588.1:p.Glu497Lys | |
| XR_935074.2:n.1663G>A | ||
| NM_001375808.1:c.1489G>A | NP_001362737.1:p.Glu497Lys | |
| NM_001375809.1:c.1489G>A | NP_001362738.1:p.Glu497Lys | |
| NM_001375808.2:c.1489G>A MANE Select | NP_001362737.1:p.Glu497Lys |