Linked Data
ClinVar Variation Id:
517251
dbSNP Id:
rs1553876694
gnomAD v4:
4-6289107-C-T
COSMIC:
COSM3303182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6289107C>T , CM000666.2:g.6289107C>T | GRCh38 |
| NC_000004.11:g.6290834C>T , CM000666.1:g.6290834C>T | GRCh37 |
| NC_000004.10:g.6341735C>T | NCBI36 |
| NG_011700.1:g.24258C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.436C>T | ENSP00000507852.1:p.Arg146Cys | |
| ENST00000683395.1:c.426C>T | ||
| ENST00000684054.1:c.436C>T | ENSP00000507120.1:p.Arg146Cys | |
| ENST00000684087.1:c.436C>T | ENSP00000506978.1:p.Arg146Cys | |
| ENST00000684700.1:c.436C>T | ENSP00000507806.1:p.Arg146Cys | |
| ENST00000506362.2:c.187C>T | ENSP00000424103.2:p.Arg63Cys | |
| ENST00000673642.1:c.235C>T | ENSP00000501242.1:p.Arg79Cys | |
| ENST00000673991.1:c.436C>T | ENSP00000501033.1:p.Arg146Cys | |
| ENST00000674051.1:c.310C>T | ENSP00000501083.1:p.Arg104Cys | |
| ENST00000226760.5:c.436C>T MANE Select | ENSP00000226760.1:p.Arg146Cys | |
| ENST00000503569.5:c.436C>T | ENSP00000423337.1:p.Arg146Cys | |
| ENST00000506362.1:c.33C>T | ||
| ENST00000507765.1:n.621C>T | ||
| NM_001145853.1:c.436C>T | NP_001139325.1:p.Arg146Cys | |
| NM_006005.3:c.436C>T MANE Select | NP_005996.2:p.Arg146Cys | |
| XM_017008586.1:c.445C>T | XP_016864075.1:p.Arg149Cys |