Linked Data
ClinVar Variation Id:
485498
dbSNP Id:
rs766996989
ExAC:
12:12871159 A / G
gnomAD v2:
12-12871159-A-G
gnomAD v3:
12-12718225-A-G
gnomAD v4:
12-12718225-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718225A>G , CM000674.2:g.12718225A>G | GRCh38 |
| NC_000012.11:g.12871159A>G , CM000674.1:g.12871159A>G | GRCh37 |
| NC_000012.10:g.12762426A>G | NCBI36 |
| NG_016341.1:g.5858A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.386A>G | ENSP00000507272.1:p.His129Arg | |
| ENST00000682620.1:n.1631-600A>G | ||
| ENST00000684771.1:n.585-600A>G | ||
| ENST00000228872.9:c.386A>G MANE Select | ENSP00000228872.4:p.His129Arg | |
| ENST00000228872.8:c.386A>G | ENSP00000228872.4:p.His129Arg | |
| ENST00000396340.1:c.386A>G | ENSP00000379629.1:p.His129Arg | |
| ENST00000442489.1:c.193+172A>G | ENSP00000407597.1:n.193+172A>G | |
| ENST00000477087.1:n.155-600A>G | ||
| NM_004064.4:c.386A>G | NP_004055.1:p.His129Arg | |
| NM_004064.5:c.386A>G MANE Select | NP_004055.1:p.His129Arg |