Linked Data
ClinVar Variation Id:
14907
ClinVar RCV Id:
RCV000016036
dbSNP Id:
rs9264942
gnomAD v2:
6-31274380-T-C
gnomAD v3:
6-31306603-T-C
gnomAD v4:
6-31306603-T-C
MyVariant Identifiers:
chr6:g.31274380T>C (hg19)
chr6:g.31274380_31274385delinsCAGGCA (hg19)
chr6:g.31306603T>C (hg38)
chr6:g.31306603_31306608delinsCAGGCA (hg38)
PubMed:
PMID:19935663
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31306603T>C , CM000668.2:g.31306603T>C | GRCh38 |
| NC_000006.11:g.31274380T>C , CM000668.1:g.31274380T>C | GRCh37 |
| NC_000006.10:g.31382359T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_926691.1:n.949+175A>G | ||
| XR_926691.2:n.965+175A>G |