Linked Data
ClinVar Variation Id:
902248
ClinVar RCV Id:
RCV001148668
dbSNP Id:
rs1718547006
gnomAD v4:
3-190387965-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190387965C>T , CM000665.2:g.190387965C>T | GRCh38 |
| NC_000003.11:g.190105754C>T , CM000665.1:g.190105754C>T | GRCh37 |
| NC_000003.10:g.191588448C>T | NCBI36 |
| NG_008149.1:g.4914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.2:c.-155C>T | ENSP00000264734.2:n.-155C>T | |
| ENST00000468220.1:n.306+13362C>T | ||
| NM_006580.3:c.-155C>T | NP_006571.1:n.-155C>T | |
| NM_001378492.1:c.-93-272C>T | NP_001365421.1:n.-93-272C>T | |
| NM_001378493.1:c.-93-272C>T | NP_001365422.1:n.-93-272C>T |