Linked Data
ClinVar Variation Id:
417965
dbSNP Id:
rs370053399
ExAC:
19:7706729 C / T
gnomAD v2:
19-7706729-C-T
gnomAD v3:
19-7641843-C-T
gnomAD v4:
19-7641843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7641843C>T , CM000681.2:g.7641843C>T | GRCh38 |
| NC_000019.9:g.7706729C>T , CM000681.1:g.7706729C>T | GRCh37 |
| NC_000019.8:g.7612729C>T | NCBI36 |
| NG_016709.1:g.9739C>T , LRG_165:g.9739C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595866.2:c.*522C>T | ENSP00000469553.2:n.*522C>T | |
| ENST00000600702.6:c.568C>T | ENSP00000471737.2:p.Arg190Cys | |
| ENST00000698367.1:n.616C>T | ||
| ENST00000698368.1:c.*671C>T | ENSP00000513686.1:n.*671C>T | |
| ENST00000698369.1:n.1718C>T | ||
| ENST00000698370.1:n.375C>T | ||
| ENST00000698371.1:c.64C>T | ENSP00000513688.1:p.Arg22Cys | |
| ENST00000221283.10:c.568C>T MANE Select | ENSP00000221283.4:p.Arg190Cys | |
| ENST00000221283.9:c.568C>T | ENSP00000221283.4:p.Arg190Cys | |
| ENST00000414284.6:c.559C>T | ENSP00000409471.1:p.Arg187Cys | |
| ENST00000441779.6:c.601C>T | ENSP00000413606.2:p.Arg201Cys | |
| ENST00000594221.5:n.14C>T | ||
| ENST00000595866.1:c.667C>T | ||
| ENST00000595950.5:c.412C>T | ENSP00000471161.1:p.Arg138Cys | |
| ENST00000597068.5:c.568C>T | ENSP00000471327.1:p.Arg190Cys | |
| ENST00000598664.5:c.52-191C>T | ENSP00000472796.1:n.52-191C>T | |
| ENST00000599648.1:n.402C>T | ||
| ENST00000599737.5:c.382-191C>T | ENSP00000471585.1:n.382-191C>T | |
| ENST00000622853.4:c.568C>T | ENSP00000480468.1:p.Arg190Cys | |
| NM_001127396.2:c.559C>T | NP_001120868.1:p.Arg187Cys | |
| NM_001272034.1:c.601C>T | NP_001258963.1:p.Arg201Cys | |
| NM_006949.3:c.568C>T | NP_008880.2:p.Arg190Cys | |
| NR_073560.1:n.617C>T | ||
| XM_011528210.1:c.568C>T | XP_011526512.1:p.Arg190Cys | |
| XM_011528211.1:c.568C>T | XP_011526513.1:p.Arg190Cys | |
| XM_011528212.1:c.568C>T | XP_011526514.1:p.Arg190Cys | |
| XM_011528213.1:c.568C>T | XP_011526515.1:p.Arg190Cys | |
| XM_011528210.2:c.568C>T | XP_011526512.1:p.Arg190Cys | |
| XM_011528212.3:c.568C>T | XP_011526514.1:p.Arg190Cys | |
| XR_001753741.2:n.606C>T | ||
| NM_006949.4:c.568C>T MANE Select | NP_008880.2:p.Arg190Cys | |
| NM_001127396.3:c.559C>T | NP_001120868.1:p.Arg187Cys | |
| NM_001272034.2:c.601C>T | NP_001258963.1:p.Arg201Cys | |
| NR_073560.2:n.608C>T |