Linked Data
ClinVar Variation Id:
902249
ClinVar RCV Id:
RCV001148669
dbSNP Id:
rs192579160
ExAC:
3:190105868 C / T
gnomAD v2:
3-190105868-C-T
gnomAD v3:
3-190388079-C-T
gnomAD v4:
3-190388079-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388079C>T , CM000665.2:g.190388079C>T | GRCh38 |
| NC_000003.11:g.190105868C>T , CM000665.1:g.190105868C>T | GRCh37 |
| NC_000003.10:g.191588562C>T | NCBI36 |
| NG_008149.1:g.5028C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.2:c.-41C>T | ENSP00000264734.2:n.-41C>T | |
| ENST00000468220.1:n.306+13476C>T | ||
| NM_006580.3:c.-41C>T | NP_006571.1:n.-41C>T | |
| NM_001378492.1:c.-93-158C>T | NP_001365421.1:n.-93-158C>T | |
| NM_001378493.1:c.-93-158C>T | NP_001365422.1:n.-93-158C>T |