Linked Data
ClinVar Variation Id:
858541
ClinVar RCV Id:
RCV001064434
dbSNP Id:
rs757917082
ExAC:
12:12871054 C / A
gnomAD v2:
12-12871054-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718120C>A , CM000674.2:g.12718120C>A | GRCh38 |
| NC_000012.11:g.12871054C>A , CM000674.1:g.12871054C>A | GRCh37 |
| NC_000012.10:g.12762321C>A | NCBI36 |
| NG_016341.1:g.5753C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.281C>A | ENSP00000507272.1:p.Pro94His | |
| ENST00000682620.1:n.1631-705C>A | ||
| ENST00000684771.1:n.585-705C>A | ||
| ENST00000228872.9:c.281C>A MANE Select | ENSP00000228872.4:p.Pro94His | |
| ENST00000228872.8:c.281C>A | ENSP00000228872.4:p.Pro94His | |
| ENST00000396340.1:c.281C>A | ENSP00000379629.1:p.Pro94His | |
| ENST00000442489.1:c.193+67C>A | ENSP00000407597.1:n.193+67C>A | |
| ENST00000477087.1:n.155-705C>A | ||
| NM_004064.4:c.281C>A | NP_004055.1:p.Pro94His | |
| NM_004064.5:c.281C>A MANE Select | NP_004055.1:p.Pro94His |