Linked Data
ClinVar Variation Id:
633591
ClinVar RCV Id:
RCV000782105
dbSNP Id:
rs756429763
ExAC:
7:5265458 G / A
gnomAD v2:
7-5265458-G-A
gnomAD v3:
7-5225827-G-A
gnomAD v4:
7-5225827-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5225827G>A , CM000669.2:g.5225827G>A | GRCh38 |
| NC_000007.13:g.5265458G>A , CM000669.1:g.5265458G>A | GRCh37 |
| NC_000007.12:g.5231984G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288828.9:c.745G>A MANE Select | ENSP00000288828.4:p.Val249Met | |
| ENST00000288828.8:c.745G>A | ENSP00000288828.4:p.Val249Met | |
| ENST00000382384.6:c.691G>A | ENSP00000371821.2:p.Val231Met | |
| ENST00000401525.7:c.691G>A | ENSP00000384945.3:p.Val231Met | |
| ENST00000404704.7:c.745G>A | ENSP00000385297.3:p.Val249Met | |
| ENST00000466014.5:n.1080G>A | ||
| ENST00000480238.5:n.443G>A | ||
| ENST00000484262.1:c.568G>A | ENSP00000429654.1:p.Val190Met | |
| ENST00000488359.1:n.451G>A | ||
| NM_001033518.1:c.745G>A | NP_001028690.1:p.Val249Met | |
| NM_001033519.1:c.691G>A | NP_001028691.1:p.Val231Met | |
| NM_001033520.1:c.568G>A | NP_001028692.1:p.Val190Met | |
| NM_001278299.1:c.313G>A | NP_001265228.1:p.Val105Met | |
| NM_015610.3:c.745G>A | NP_056425.1:p.Val249Met | |
| NM_016003.3:c.691G>A | NP_057087.2:p.Val231Met | |
| XM_006715685.1:c.313G>A | XP_006715748.1:p.Val105Met | |
| XM_017011952.1:c.313G>A | XP_016867441.1:p.Val105Met | |
| NM_015610.4:c.745G>A MANE Select | NP_056425.1:p.Val249Met | |
| NM_001033518.2:c.745G>A | NP_001028690.1:p.Val249Met | |
| NM_001033519.2:c.691G>A | NP_001028691.1:p.Val231Met | |
| NM_001278299.2:c.313G>A | NP_001265228.1:p.Val105Met | |
| NM_016003.4:c.691G>A | NP_057087.2:p.Val231Met |