Linked Data
ClinVar Variation Id:
92362
dbSNP Id:
rs398123126
ExAC:
7:65551750 C / T
gnomAD v2:
7-65551750-C-T
gnomAD v3:
7-66086763-C-T
gnomAD v4:
7-66086763-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66086763C>T , CM000669.2:g.66086763C>T | GRCh38 |
| NC_000007.13:g.65551750C>T , CM000669.1:g.65551750C>T | GRCh37 |
| NC_000007.12:g.65189185C>T | NCBI36 |
| NG_009288.1:g.15975C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.544C>T MANE Select | ENSP00000307188.9:p.Arg182Ter | |
| ENST00000362000.10:c.349C>T | ENSP00000354710.6:p.Arg117Ter | |
| ENST00000380839.9:c.524+101C>T | ENSP00000370219.4:n.524+101C>T | |
| ENST00000395331.4:c.544C>T | ENSP00000378740.3:p.Arg182Ter | |
| ENST00000395332.8:c.544C>T | ENSP00000378741.3:p.Arg182Ter | |
| ENST00000671817.1:c.524+101C>T | ENSP00000500462.1:n.524+101C>T | |
| ENST00000672498.1:c.447-966C>T | ENSP00000500227.1:n.447-966C>T | |
| ENST00000672586.1:n.449C>T | ||
| ENST00000672676.1:n.714C>T | ||
| ENST00000673149.1:n.356C>T | ||
| ENST00000673350.1:n.792C>T | ||
| ENST00000673518.1:c.524+101C>T | ENSP00000499889.1:n.524+101C>T | |
| ENST00000673594.1:n.393C>T | ||
| ENST00000304874.13:c.544C>T | ENSP00000307188.9:p.Arg182Ter | |
| ENST00000362000.9:c.349C>T | ENSP00000354710.5:p.Arg117Ter | |
| ENST00000380839.8:c.524+101C>T | ENSP00000370219.4:n.524+101C>T | |
| ENST00000395331.3:c.544C>T | ENSP00000378740.3:p.Arg182Ter | |
| ENST00000395332.7:c.544C>T | ENSP00000378741.3:p.Arg182Ter | |
| ENST00000487982.5:n.610C>T | ||
| NM_000048.3:c.544C>T | NP_000039.2:p.Arg182Ter | |
| NM_001024943.1:c.544C>T | NP_001020114.1:p.Arg182Ter | |
| NM_001024944.1:c.544C>T | NP_001020115.1:p.Arg182Ter | |
| NM_001024946.1:c.524+101C>T | NP_001020117.1:n.524+101C>T | |
| NM_000048.4:c.544C>T MANE Select | NP_000039.2:p.Arg182Ter | |
| NM_001024943.2:c.544C>T | NP_001020114.1:p.Arg182Ter | |
| NM_001024944.2:c.544C>T | NP_001020115.1:p.Arg182Ter | |
| NM_001024946.2:c.524+101C>T | NP_001020117.1:n.524+101C>T |