Linked Data
ClinVar Variation Id:
1449172
ClinVar RCV Id:
RCV002012335
dbSNP Id:
rs1247839240
gnomAD v2:
12-58159835-G-C
gnomAD v4:
12-57766052-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766052G>C , CM000674.2:g.57766052G>C | GRCh38 |
| NC_000012.11:g.58159835G>C , CM000674.1:g.58159835G>C | GRCh37 |
| NC_000012.10:g.56446102G>C | NCBI36 |
| NG_007076.1:g.6142C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.253C>G | ||
| ENST00000713544.1:c.341C>G | ENSP00000518840.1:p.Thr114Arg | |
| ENST00000713545.1:c.341C>G | ENSP00000518841.1:p.Thr114Arg | |
| ENST00000228606.9:c.341C>G MANE Select | ENSP00000228606.4:p.Thr114Arg | |
| ENST00000228606.8:c.341C>G | ENSP00000228606.4:p.Thr114Arg | |
| ENST00000546496.1:n.169C>G | ||
| ENST00000546609.1:c.253C>G | ||
| ENST00000547344.5:n.395C>G | ||
| ENST00000552186.1:n.460C>G | ||
| NM_000785.3:c.341C>G | NP_000776.1:p.Thr114Arg | |
| NM_000785.4:c.341C>G MANE Select | NP_000776.1:p.Thr114Arg |