Linked Data
ClinVar Variation Id:
3019445
ClinVar RCV Id:
RCV003872076
dbSNP Id:
rs1718561810
gnomAD v4:
3-190388344-T-C
MyVariant Identifiers:
chr3:g.190106133T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388344T>C , CM000665.2:g.190388344T>C | GRCh38 |
| NC_000003.11:g.190106133T>C , CM000665.1:g.190106133T>C | GRCh37 |
| NC_000003.10:g.191588827T>C | NCBI36 |
| NG_008149.1:g.5293T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264734.3:c.15T>C MANE Select | ENSP00000264734.3:p.Leu5= | |
| ENST00000456423.2:c.15T>C | ENSP00000414136.2:p.Leu5= | |
| ENST00000264734.2:c.225T>C | ENSP00000264734.2:p.Leu75= | |
| ENST00000456423.1:c.225T>C | ENSP00000414136.1:p.Leu75= | |
| ENST00000468220.1:n.306+13741T>C | ||
| NM_006580.3:c.225T>C | NP_006571.1:p.Leu75= | |
| NM_001378492.1:c.15T>C | NP_001365421.1:p.Leu5= | |
| NM_001378493.1:c.15T>C | NP_001365422.1:p.Leu5= | |
| NM_006580.4:c.15T>C MANE Select | NP_006571.2:p.Leu5= |