Linked Data
ClinVar Variation Id:
1428392
ClinVar RCV Id:
RCV001964865
dbSNP Id:
rs773464401
ExAC:
6:31937343 C / T
gnomAD v2:
6-31937343-C-T
gnomAD v3:
6-31969566-C-T
gnomAD v4:
6-31969566-C-T
COSMIC:
COSM303209
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969566C>T , CM000668.2:g.31969566C>T | GRCh38 |
| NC_000006.11:g.31937343C>T , CM000668.1:g.31937343C>T | GRCh37 |
| NC_000006.10:g.32045322C>T | NCBI36 |
| NG_032652.1:g.15763C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2640C>T | ENSP00000419905.1:n.*2640C>T | |
| ENST00000485349.6:n.4068C>T | ||
| ENST00000491994.2:c.*134C>T | ENSP00000417586.2:n.*134C>T | |
| ENST00000494058.6:n.3894C>T | ||
| ENST00000697831.1:c.3523C>T | ENSP00000513453.1:p.Arg1175Cys | |
| ENST00000697832.1:n.3745C>T | ||
| ENST00000697833.1:c.*540C>T | ENSP00000513454.1:n.*540C>T | |
| ENST00000697834.1:n.4310C>T | ||
| ENST00000697835.1:c.*3110C>T | ENSP00000513455.1:n.*3110C>T | |
| ENST00000697836.1:n.3946C>T | ||
| ENST00000697837.1:c.*708C>T | ENSP00000513456.1:n.*708C>T | |
| ENST00000697838.1:c.3457C>T | ENSP00000513457.1:p.Arg1153Cys | |
| ENST00000697839.1:n.4404C>T | ||
| ENST00000697840.1:c.3628C>T | ENSP00000513458.1:p.Arg1210Cys | |
| ENST00000697841.1:n.4503C>T | ||
| ENST00000697842.1:n.3847C>T | ||
| ENST00000375394.7:c.3592C>T MANE Select | ENSP00000364543.2:p.Arg1198Cys | |
| ENST00000375394.6:c.3592C>T | ENSP00000364543.2:p.Arg1198Cys | |
| ENST00000465703.5:n.4322C>T | ||
| ENST00000470453.1:n.434C>T | ||
| ENST00000471818.1:n.521C>T | ||
| ENST00000474839.5:c.*2964C>T | ENSP00000420470.1:n.*2964C>T | |
| ENST00000483553.5:c.1122C>T | ||
| ENST00000491994.1:c.681C>T | ||
| NM_006929.4:c.3592C>T | NP_008860.4:p.Arg1198Cys | |
| XR_926301.3:n.3608C>T | ||
| NM_006929.5:c.3592C>T MANE Select | NP_008860.4:p.Arg1198Cys |