Linked Data
ClinVar Variation Id:
376361
ClinVar RCV Id:
RCV000431439
dbSNP Id:
rs16906252
ExAC:
10:131265545 C / T
gnomAD v2:
10-131265545-C-T
gnomAD v3:
10-129467281-C-T
gnomAD v4:
10-129467281-C-T
PubMed:
PMID:25910840
CIViC:
CA5747879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129467281C>T , CM000672.2:g.129467281C>T | GRCh38 |
| NC_000010.10:g.131265545C>T , CM000672.1:g.131265545C>T | GRCh37 |
| NC_000010.9:g.131155535C>T | NCBI36 |
| NG_052673.1:g.5098C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306010.8:c.66C>T | ENSP00000302111.7:p.Arg22= | |
| ENST00000651593.1:c.-28C>T MANE Select | ENSP00000498729.1:n.-28C>T | |
| ENST00000306010.7:c.66C>T | ENSP00000302111.7:p.Arg22= | |
| ENST00000482547.1:n.20C>T | ||
| ENST00000482653.1:n.53C>T | ||
| NM_002412.3:c.66C>T | NP_002403.2:p.Arg22= | |
| NM_002412.4:c.66C>T | NP_002403.2:p.Arg22= | |
| NM_002412.5:c.-28C>T MANE Select | NP_002403.3:n.-28C>T |