Linked Data
ClinVar Variation Id:
368829
ClinVar RCV Id:
RCV000316019
dbSNP Id:
rs35594137
gnomAD v2:
1-147245497-C-T
gnomAD v3:
1-147773393-C-T
gnomAD v4:
1-147773393-C-T
PubMed:
PMID:12522116
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147773393C>T , CM000663.2:g.147773393C>T | GRCh38 |
| NC_000001.10:g.147245497C>T , CM000663.1:g.147245497C>T | GRCh37 |
| NC_000001.9:g.145712121C>T | NCBI36 |
| NG_009369.2:g.4982G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_005272951.3:c.-34+7274G>A | XP_005273008.1:n.-34+7274G>A | |
| XM_011509415.1:c.-2320G>A | XP_011507717.1:n.-2320G>A | |
| XR_922078.1:n.434-4168C>T | ||
| XR_922079.1:n.434-4168C>T | ||
| XM_005272951.4:c.-34+7274G>A | XP_005273008.1:n.-34+7274G>A | |
| XM_017001044.1:c.-2161G>A | XP_016856533.1:n.-2161G>A | |
| XR_922079.3:n.744-4168C>T |