Linked Data
ClinVar Variation Id:
163859
dbSNP Id:
rs555379908
ExAC:
6:35782548 C / A
gnomAD v2:
6-35782548-C-A
gnomAD v3:
6-35814771-C-A
gnomAD v4:
6-35814771-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35814771C>A , CM000668.2:g.35814771C>A | GRCh38 |
| NC_000006.11:g.35782548C>A , CM000668.1:g.35782548C>A | GRCh37 |
| NC_000006.10:g.35890526C>A | NCBI36 |
| NG_012184.1:g.14478C>A | |
| NG_012184.2:g.14478C>A | |
| NG_012184.3:g.22566C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.638C>A MANE Select | ENSP00000353346.1:p.Ala213Glu | |
| ENST00000496656.2:n.417C>A | ||
| ENST00000651132.1:c.638C>A | ENSP00000498322.1:p.Ala213Glu | |
| ENST00000651676.1:c.638C>A | ENSP00000498699.1:p.Ala213Glu | |
| ENST00000651994.1:c.*70-4666C>A | ENSP00000498310.1:n.*70-4666C>A | |
| ENST00000652718.1:c.470C>A | ENSP00000498866.1:p.Ala157Glu | |
| ENST00000360215.2:c.638C>A | ENSP00000353346.1:p.Ala213Glu | |
| ENST00000496656.1:n.417C>A | ||
| NM_182548.3:c.638C>A | NP_872354.1:p.Ala213Glu | |
| XM_011514403.1:c.638C>A | XP_011512705.1:p.Ala213Glu | |
| NM_182548.4:c.638C>A MANE Select | NP_872354.1:p.Ala213Glu |