Linked Data
ClinVar Variation Id:
2809628
ClinVar RCV Id:
RCV003649706
gnomAD v4:
17-35576178-A-G
MyVariant Identifiers:
chr17:g.33903197A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35576178A>G , CM000679.2:g.35576178A>G | GRCh38 |
| NC_000017.10:g.33903197A>G , CM000679.1:g.33903197A>G | GRCh37 |
| NC_000017.9:g.30927310A>G | NCBI36 |
| NG_008447.1:g.7460T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225873.9:c.684T>C MANE Select | ENSP00000225873.3:p.Val228= | |
| ENST00000586663.2:c.684T>C | ENSP00000466894.2:p.Val228= | |
| ENST00000225873.8:c.684T>C | ENSP00000225873.3:p.Val228= | |
| ENST00000586663.1:c.684T>C | ENSP00000466894.1:p.Val228= | |
| ENST00000613219.4:c.684T>C | ENSP00000482609.1:p.Val228= | |
| NM_000286.2:c.684T>C | NP_000277.1:p.Val228= | |
| NM_000286.3:c.684T>C MANE Select | NP_000277.1:p.Val228= |