Linked Data
ClinVar Variation Id:
1923855
ClinVar RCV Id:
RCV002609184
dbSNP Id:
rs781119946
ExAC:
12:58159848 A / G
gnomAD v2:
12-58159848-A-G
gnomAD v4:
12-57766065-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766065A>G , CM000674.2:g.57766065A>G | GRCh38 |
| NC_000012.11:g.58159848A>G , CM000674.1:g.58159848A>G | GRCh37 |
| NC_000012.10:g.56446115A>G | NCBI36 |
| NG_007076.1:g.6129T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.240T>C | ||
| ENST00000713544.1:c.328T>C | ENSP00000518840.1:p.Phe110Leu | |
| ENST00000713545.1:c.328T>C | ENSP00000518841.1:p.Phe110Leu | |
| ENST00000228606.9:c.328T>C MANE Select | ENSP00000228606.4:p.Phe110Leu | |
| ENST00000228606.8:c.328T>C | ENSP00000228606.4:p.Phe110Leu | |
| ENST00000546496.1:n.156T>C | ||
| ENST00000546609.1:c.240T>C | ||
| ENST00000547344.5:n.382T>C | ||
| ENST00000552186.1:n.447T>C | ||
| NM_000785.3:c.328T>C | NP_000776.1:p.Phe110Leu | |
| NM_000785.4:c.328T>C MANE Select | NP_000776.1:p.Phe110Leu |