Linked Data
ClinVar Variation Id:
2291072
dbSNP Id:
rs146893441
ExAC:
9:894166 G / A
gnomAD v2:
9-894166-G-A
gnomAD v3:
9-894166-G-A
gnomAD v4:
9-894166-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.894166G>A , CM000671.2:g.894166G>A | GRCh38 |
| NC_000009.11:g.894166G>A , CM000671.1:g.894166G>A | GRCh37 |
| NC_000009.10:g.884166G>A | NCBI36 |
| NG_009221.1:g.57477G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.793G>A MANE Select | ENSP00000371711.3:p.Val265Met | |
| ENST00000382276.7:c.793G>A | ENSP00000371711.3:p.Val265Met | |
| ENST00000564322.1:n.942G>A | ||
| ENST00000569227.1:c.319G>A | ENSP00000454701.1:p.Val107Met | |
| NM_021951.2:c.793G>A | NP_068770.2:p.Val265Met | |
| XM_006716732.1:c.793G>A | XP_006716795.1:p.Val265Met | |
| XM_011517770.1:c.841G>A | XP_011516072.1:p.Val281Met | |
| XM_011517771.1:c.841G>A | XP_011516073.1:p.Val281Met | |
| XM_011517772.1:c.841G>A | XP_011516074.1:p.Val281Met | |
| XM_011517773.1:c.319G>A | XP_011516075.1:p.Val107Met | |
| NM_001363767.1:c.319G>A | NP_001350696.1:p.Val107Met | |
| XM_011517773.3:c.319G>A | XP_011516075.1:p.Val107Met | |
| XM_017014374.1:c.587-22597G>A | XP_016869863.1:n.587-22597G>A | |
| XM_017014375.1:c.539-22597G>A | XP_016869864.1:n.539-22597G>A | |
| XM_024447434.1:c.247G>A | XP_024303202.1:p.Val83Met | |
| NM_021951.3:c.793G>A MANE Select | NP_068770.2:p.Val265Met |