Linked Data
ClinVar Variation Id:
364428
dbSNP Id:
rs2066715
ExAC:
9:107588033 C / T
gnomAD v2:
9-107588033-C-T
gnomAD v3:
9-104825752-C-T
gnomAD v4:
9-104825752-C-T
COSMIC:
COSM3982670
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104825752C>T , CM000671.2:g.104825752C>T | GRCh38 |
| NC_000009.11:g.107588033C>T , CM000671.1:g.107588033C>T | GRCh37 |
| NC_000009.10:g.106627854C>T | NCBI36 |
| NG_007981.1:g.107404G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374736.8:c.2473G>A MANE Select | ENSP00000363868.3:p.Val825Ile | |
| ENST00000678995.1:c.2473G>A | ENSP00000504612.1:p.Val825Ile | |
| ENST00000374736.7:c.2473G>A | ENSP00000363868.3:p.Val825Ile | |
| ENST00000494467.1:n.646G>A | ||
| NM_005502.3:c.2473G>A | NP_005493.2:p.Val825Ile | |
| XM_005251773.1:c.2473G>A | XP_005251830.1:p.Val825Ile | |
| XM_005251776.1:c.2293G>A | XP_005251833.1:p.Val765Ile | |
| XM_011518339.1:c.2548G>A | XP_011516641.1:p.Val850Ile | |
| XM_011518340.1:c.2548G>A | XP_011516642.1:p.Val850Ile | |
| XM_011518341.1:c.2548G>A | XP_011516643.1:p.Val850Ile | |
| XM_011518342.1:c.2110G>A | XP_011516644.1:p.Val704Ile | |
| XM_011518343.1:c.2548G>A | XP_011516645.1:p.Val850Ile | |
| XM_011518344.1:c.2548G>A | XP_011516646.1:p.Val850Ile | |
| XM_005251773.3:c.2473G>A | XP_005251830.1:p.Val825Ile | |
| XM_005251776.3:c.2293G>A | XP_005251833.1:p.Val765Ile | |
| XM_011518339.3:c.2548G>A | XP_011516641.1:p.Val850Ile | |
| XM_011518340.3:c.2548G>A | XP_011516642.1:p.Val850Ile | |
| XM_011518341.3:c.2548G>A | XP_011516643.1:p.Val850Ile | |
| XM_011518342.3:c.2110G>A | XP_011516644.1:p.Val704Ile | |
| XM_011518344.2:c.2548G>A | XP_011516646.1:p.Val850Ile | |
| XM_017014378.2:c.2548G>A | XP_016869867.1:p.Val850Ile | |
| XM_017014379.2:c.2548G>A | XP_016869868.1:p.Val850Ile | |
| XM_017014380.2:c.2548G>A | XP_016869869.1:p.Val850Ile | |
| XM_017014381.2:c.2548G>A | XP_016869870.1:p.Val850Ile | |
| XM_017014382.2:c.2410G>A | XP_016869871.1:p.Val804Ile | |
| XR_001746223.1:n.2861G>A | ||
| NM_005502.4:c.2473G>A MANE Select | NP_005493.2:p.Val825Ile |