Linked Data
ClinVar Variation Id:
834127
ClinVar RCV Id:
RCV001034753
dbSNP Id:
rs767109665
ExAC:
12:12871111 G / A
gnomAD v2:
12-12871111-G-A
gnomAD v3:
12-12718177-G-A
gnomAD v4:
12-12718177-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718177G>A , CM000674.2:g.12718177G>A | GRCh38 |
| NC_000012.11:g.12871111G>A , CM000674.1:g.12871111G>A | GRCh37 |
| NC_000012.10:g.12762378G>A | NCBI36 |
| NG_016341.1:g.5810G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.338G>A | ENSP00000507272.1:p.Arg113His | |
| ENST00000682620.1:n.1631-648G>A | ||
| ENST00000684771.1:n.585-648G>A | ||
| ENST00000228872.9:c.338G>A MANE Select | ENSP00000228872.4:p.Arg113His | |
| ENST00000228872.8:c.338G>A | ENSP00000228872.4:p.Arg113His | |
| ENST00000396340.1:c.338G>A | ENSP00000379629.1:p.Arg113His | |
| ENST00000442489.1:c.193+124G>A | ENSP00000407597.1:n.193+124G>A | |
| ENST00000477087.1:n.155-648G>A | ||
| NM_004064.4:c.338G>A | NP_004055.1:p.Arg113His | |
| NM_004064.5:c.338G>A MANE Select | NP_004055.1:p.Arg113His |