Linked Data
ClinVar Variation Id:
203615
dbSNP Id:
rs369879957
ExAC:
7:65552367 C / T
gnomAD v2:
7-65552367-C-T
gnomAD v3:
7-66087380-C-T
gnomAD v4:
7-66087380-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66087380C>T , CM000669.2:g.66087380C>T | GRCh38 |
| NC_000007.13:g.65552367C>T , CM000669.1:g.65552367C>T | GRCh37 |
| NC_000007.12:g.65189802C>T | NCBI36 |
| NG_009288.1:g.16592C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.649C>T MANE Select | ENSP00000307188.9:p.Arg217Ter | |
| ENST00000362000.10:c.454C>T | ENSP00000354710.6:p.Arg152Ter | |
| ENST00000380839.9:c.571C>T | ENSP00000370219.4:p.Arg191Ter | |
| ENST00000395331.4:c.649C>T | ENSP00000378740.3:p.Arg217Ter | |
| ENST00000395332.8:c.649C>T | ENSP00000378741.3:p.Arg217Ter | |
| ENST00000671817.1:c.571C>T | ENSP00000500462.1:p.Arg191Ter | |
| ENST00000672498.1:c.447-349C>T | ENSP00000500227.1:n.447-349C>T | |
| ENST00000672586.1:n.1066C>T | ||
| ENST00000672676.1:n.1331C>T | ||
| ENST00000673149.1:n.461C>T | ||
| ENST00000673350.1:n.1409C>T | ||
| ENST00000673518.1:c.571C>T | ENSP00000499889.1:p.Arg191Ter | |
| ENST00000673594.1:n.498C>T | ||
| ENST00000304874.13:c.649C>T | ENSP00000307188.9:p.Arg217Ter | |
| ENST00000362000.9:c.454C>T | ENSP00000354710.5:p.Arg152Ter | |
| ENST00000380839.8:c.571C>T | ENSP00000370219.4:p.Arg191Ter | |
| ENST00000395331.3:c.649C>T | ENSP00000378740.3:p.Arg217Ter | |
| ENST00000395332.7:c.649C>T | ENSP00000378741.3:p.Arg217Ter | |
| NM_000048.3:c.649C>T | NP_000039.2:p.Arg217Ter | |
| NM_001024943.1:c.649C>T | NP_001020114.1:p.Arg217Ter | |
| NM_001024944.1:c.649C>T | NP_001020115.1:p.Arg217Ter | |
| NM_001024946.1:c.571C>T | NP_001020117.1:p.Arg191Ter | |
| NM_000048.4:c.649C>T MANE Select | NP_000039.2:p.Arg217Ter | |
| NM_001024943.2:c.649C>T | NP_001020114.1:p.Arg217Ter | |
| NM_001024944.2:c.649C>T | NP_001020115.1:p.Arg217Ter | |
| NM_001024946.2:c.571C>T | NP_001020117.1:p.Arg191Ter |