Linked Data
ClinVar Variation Id:
1954153
ClinVar RCV Id:
RCV002705390
dbSNP Id:
rs766056344
ExAC:
3:190105930 T / C
gnomAD v2:
3-190105930-T-C
gnomAD v3:
3-190388141-T-C
gnomAD v4:
3-190388141-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388141T>C , CM000665.2:g.190388141T>C | GRCh38 |
| NC_000003.11:g.190105930T>C , CM000665.1:g.190105930T>C | GRCh37 |
| NC_000003.10:g.191588624T>C | NCBI36 |
| NG_008149.1:g.5090T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456423.2:c.-189T>C | ENSP00000414136.2:n.-189T>C | |
| ENST00000264734.2:c.22T>C | ENSP00000264734.2:p.Leu8= | |
| ENST00000456423.1:c.22T>C | ENSP00000414136.1:p.Leu8= | |
| ENST00000468220.1:n.306+13538T>C | ||
| NM_006580.3:c.22T>C | NP_006571.1:p.Leu8= | |
| NM_001378492.1:c.-93-96T>C | NP_001365421.1:n.-93-96T>C | |
| NM_001378493.1:c.-93-96T>C | NP_001365422.1:n.-93-96T>C |