Linked Data
ClinVar Variation Id:
17609
dbSNP Id:
rs121434552
ExAC:
17:58234014 G / A
gnomAD v2:
17-58234014-G-A
gnomAD v4:
17-60156653-G-A
COSMIC:
COSM437050
MyVariant Identifiers:
chr17:g.58234014G>A (hg19)
chr17:g.58234014_58234017delinsACTT (hg19)
chr17:g.60156653G>A (hg38)
PubMed:
PMID:17652713
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.60156653G>A , CM000679.2:g.60156653G>A | GRCh38 |
| NC_000017.10:g.58234014G>A , CM000679.1:g.58234014G>A | GRCh37 |
| NC_000017.9:g.55588796G>A | NCBI36 |
| NG_012050.1:g.11713G>A | |
| NG_012050.2:g.11713G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300900.9:c.206G>A MANE Select | ENSP00000300900.3:p.Arg69His | |
| ENST00000300900.8:c.206G>A | ENSP00000300900.3:p.Arg69His | |
| ENST00000585705.5:n.299G>A | ||
| ENST00000586876.1:c.206G>A | ENSP00000467465.1:p.Arg69His | |
| ENST00000591725.1:c.-65G>A | ENSP00000466964.1:n.-65G>A | |
| NM_000717.3:c.206G>A | NP_000708.1:p.Arg69His | |
| XM_005257639.1:c.206G>A | XP_005257696.1:p.Arg69His | |
| XM_011525183.1:c.-65G>A | XP_011523485.1:n.-65G>A | |
| NM_000717.4:c.206G>A | NP_000708.1:p.Arg69His | |
| NR_137422.1:n.305G>A | ||
| XM_005257639.3:c.206G>A | XP_005257696.1:p.Arg69His | |
| XM_011525183.2:c.-65G>A | XP_011523485.1:n.-65G>A | |
| XM_017025012.1:c.-65G>A | XP_016880501.1:n.-65G>A | |
| XR_001752604.2:n.299G>A | ||
| XR_001752605.2:n.299G>A | ||
| XR_001752606.2:n.299G>A | ||
| XR_001752607.2:n.299G>A | ||
| XR_001752608.2:n.299G>A | ||
| XR_001752609.2:n.299G>A | ||
| XR_001752610.2:n.299G>A | ||
| NM_000717.5:c.206G>A MANE Select | NP_000708.1:p.Arg69His | |
| NR_137422.2:n.268G>A |