Linked Data
ClinVar Variation Id:
297245
dbSNP Id:
rs375190067
ExAC:
1:40544282 C / T
gnomAD v2:
1-40544282-C-T
gnomAD v3:
1-40078610-C-T
gnomAD v4:
1-40078610-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40078610C>T , CM000663.2:g.40078610C>T | GRCh38 |
| NC_000001.10:g.40544282C>T , CM000663.1:g.40544282C>T | GRCh37 |
| NC_000001.9:g.40316869C>T | NCBI36 |
| NG_009192.1:g.23861G>A , LRG_690:g.23861G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.673G>A | ENSP00000394863.4:p.Val225Met | |
| ENST00000439754.6:c.676G>A | ENSP00000403207.2:p.Val226Met | |
| ENST00000449045.7:c.367G>A | ENSP00000392293.2:p.Val123Met | |
| ENST00000527311.7:c.445G>A | ENSP00000436695.3:p.Val149Met | |
| ENST00000530076.6:c.19G>A | ENSP00000434007.1:p.Val7Met | |
| ENST00000530704.6:c.*299G>A | ENSP00000431655.1:n.*299G>A | |
| ENST00000641083.1:c.654G>A | ||
| ENST00000641236.1:n.913G>A | ||
| ENST00000641319.1:c.676G>A | ENSP00000493128.1:p.Val226Met | |
| ENST00000641381.1:c.149-1697G>A | ||
| ENST00000641471.1:c.763G>A | ENSP00000493146.1:p.Val255Met | |
| ENST00000641691.1:c.*528G>A | ENSP00000492910.1:n.*528G>A | |
| ENST00000641924.1:c.*105G>A | ENSP00000493063.1:n.*105G>A | |
| ENST00000642050.2:c.676G>A MANE Select | ENSP00000493153.1:p.Val226Met | |
| ENST00000372775.2:n.73G>A | ||
| ENST00000372779.8:c.763G>A | ENSP00000361865.4:p.Val255Met | |
| ENST00000433473.7:c.676G>A | ENSP00000394863.3:p.Val226Met | |
| ENST00000439754.5:c.361G>A | ENSP00000403207.1:p.Val121Met | |
| ENST00000449045.6:c.367G>A | ENSP00000392293.2:p.Val123Met | |
| ENST00000527311.6:c.451G>A | ENSP00000436695.2:p.Val151Met | |
| ENST00000529905.5:c.676G>A | ENSP00000432053.1:p.Val226Met | |
| ENST00000530076.5:c.19G>A | ENSP00000434007.1:p.Val7Met | |
| ENST00000530704.5:c.*299G>A | ENSP00000431655.1:n.*299G>A | |
| NM_000310.3:c.676G>A , LRG_690t1:c.676G>A | NP_000301.1:p.Val226Met | |
| NM_001142604.1:c.367G>A | NP_001136076.1:p.Val123Met | |
| XM_005271008.1:c.676G>A | XP_005271065.1:p.Val226Met | |
| NM_001363695.1:c.676G>A | NP_001350624.1:p.Val226Met | |
| NM_000310.4:c.676G>A MANE Select | NP_000301.1:p.Val226Met | |
| NM_001142604.2:c.367G>A | NP_001136076.1:p.Val123Met | |
| NM_001363695.2:c.676G>A | NP_001350624.1:p.Val226Met |