Linked Data
ClinVar Variation Id:
1415167
ClinVar RCV Id:
RCV001945485
dbSNP Id:
rs746417364
ExAC:
17:7357799 G / A
gnomAD v2:
17-7357799-G-A
gnomAD v3:
17-7454480-G-A
gnomAD v4:
17-7454480-G-A
COSMIC:
COSM4069605
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454480G>A , CM000679.2:g.7454480G>A | GRCh38 |
| NC_000017.10:g.7357799G>A , CM000679.1:g.7357799G>A | GRCh37 |
| NC_000017.9:g.7298523G>A | NCBI36 |
| NG_008026.1:g.14394G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1004G>A MANE Select | ENSP00000304290.2:p.Arg335His | |
| ENST00000306071.6:c.1004G>A | ENSP00000304290.2:p.Arg335His | |
| ENST00000536404.6:c.788G>A | ENSP00000439209.2:p.Arg263His | |
| ENST00000570557.5:c.667G>A | ||
| ENST00000573209.1:n.1948G>A | ||
| ENST00000576360.1:c.641G>A | ENSP00000459092.1:p.Arg214His | |
| NM_000747.2:c.1004G>A | NP_000738.2:p.Arg335His | |
| NM_000747.3:c.1004G>A MANE Select | NP_000738.2:p.Arg335His |