Linked Data
ClinVar Variation Id:
733739
ClinVar RCV Id:
RCV000909081
dbSNP Id:
rs116437658
ExAC:
10:124923329 C / T
gnomAD v2:
10-124923329-C-T
gnomAD v3:
10-123163813-C-T
gnomAD v4:
10-123163813-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123163813C>T , CM000672.2:g.123163813C>T | GRCh38 |
| NC_000010.10:g.124923329C>T , CM000672.1:g.124923329C>T | GRCh37 |
| NC_000010.9:g.124913319C>T | NCBI36 |
| NG_033794.1:g.14570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368865.9:c.972-7C>T MANE Select | ENSP00000357858.4:n.972-7C>T | |
| ENST00000368858.9:c.971+985C>T | ENSP00000357851.5:n.971+985C>T | |
| ENST00000368859.6:c.418-1234C>T | ENSP00000357852.1:n.418-1234C>T | |
| ENST00000368865.8:c.972-7C>T | ENSP00000357858.4:n.972-7C>T | |
| NM_001007793.2:c.971+985C>T | NP_001007794.1:n.971+985C>T | |
| NM_004725.3:c.972-7C>T | NP_004716.1:n.972-7C>T | |
| NM_004725.4:c.972-7C>T MANE Select | NP_004716.1:n.972-7C>T | |
| NM_001007793.3:c.971+985C>T | NP_001007794.1:n.971+985C>T |