Linked Data
ClinVar Variation Id:
1351832
ClinVar RCV Id:
RCV002047144
dbSNP Id:
rs755655461
ExAC:
6:31937394 C / T
gnomAD v2:
6-31937394-C-T
gnomAD v4:
6-31969617-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969617C>T , CM000668.2:g.31969617C>T | GRCh38 |
| NC_000006.11:g.31937394C>T , CM000668.1:g.31937394C>T | GRCh37 |
| NC_000006.10:g.32045373C>T | NCBI36 |
| NG_032652.1:g.15814C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2691C>T | ENSP00000419905.1:n.*2691C>T | |
| ENST00000485349.6:n.4119C>T | ||
| ENST00000491994.2:c.*185C>T | ENSP00000417586.2:n.*185C>T | |
| ENST00000494058.6:n.3945C>T | ||
| ENST00000697831.1:c.3574C>T | ENSP00000513453.1:p.Arg1192Cys | |
| ENST00000697832.1:n.3796C>T | ||
| ENST00000697834.1:n.4361C>T | ||
| ENST00000697835.1:c.*3161C>T | ENSP00000513455.1:n.*3161C>T | |
| ENST00000697836.1:n.3997C>T | ||
| ENST00000697837.1:c.*759C>T | ENSP00000513456.1:n.*759C>T | |
| ENST00000697838.1:c.3508C>T | ENSP00000513457.1:p.Arg1170Cys | |
| ENST00000697839.1:n.4455C>T | ||
| ENST00000697840.1:c.3679C>T | ENSP00000513458.1:p.Arg1227Cys | |
| ENST00000697841.1:n.4554C>T | ||
| ENST00000697842.1:n.3898C>T | ||
| ENST00000375394.7:c.3643C>T MANE Select | ENSP00000364543.2:p.Arg1215Cys | |
| ENST00000375394.6:c.3643C>T | ENSP00000364543.2:p.Arg1215Cys | |
| ENST00000465703.5:n.4373C>T | ||
| ENST00000471818.1:n.572C>T | ||
| ENST00000474839.5:c.*3015C>T | ENSP00000420470.1:n.*3015C>T | |
| ENST00000483553.5:c.1173C>T | ||
| ENST00000491994.1:c.732C>T | ||
| NM_006929.4:c.3643C>T | NP_008860.4:p.Arg1215Cys | |
| XR_926301.3:n.3659C>T | ||
| NM_006929.5:c.3643C>T MANE Select | NP_008860.4:p.Arg1215Cys |