Linked Data
ClinVar Variation Id:
322652
dbSNP Id:
rs200283718
ExAC:
17:33902879 C / T
gnomAD v2:
17-33902879-C-T
gnomAD v3:
17-35575860-C-T
gnomAD v4:
17-35575860-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35575860C>T , CM000679.2:g.35575860C>T | GRCh38 |
| NC_000017.10:g.33902879C>T , CM000679.1:g.33902879C>T | GRCh37 |
| NC_000017.9:g.30926992C>T | NCBI36 |
| NG_008447.1:g.7778G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225873.9:c.1002G>A MANE Select | ENSP00000225873.3:p.Arg334= | |
| ENST00000586663.2:c.1002G>A | ENSP00000466894.2:p.Arg334= | |
| ENST00000225873.8:c.1002G>A | ENSP00000225873.3:p.Arg334= | |
| ENST00000586663.1:c.1002G>A | ENSP00000466894.1:p.Arg334= | |
| ENST00000613219.4:c.1002G>A | ENSP00000482609.1:p.Arg334= | |
| NM_000286.2:c.1002G>A | NP_000277.1:p.Arg334= | |
| NM_000286.3:c.1002G>A MANE Select | NP_000277.1:p.Arg334= |