Linked Data
ClinVar Variation Id:
5271
dbSNP Id:
rs41282065
ExAC:
17:72758167 G / A
gnomAD v2:
17-72758167-G-A
gnomAD v3:
17-74762028-G-A
gnomAD v4:
17-74762028-G-A
PubMed:
PMID:18784102
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74762028G>A , CM000679.2:g.74762028G>A | GRCh38 |
| NC_000017.10:g.72758167G>A , CM000679.1:g.72758167G>A | GRCh37 |
| NC_000017.9:g.70269762G>A | NCBI36 |
| NG_013022.1:g.18405G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262613.10:c.458G>A MANE Select | ENSP00000262613.5:p.Arg153Gln | |
| ENST00000262613.9:c.458G>A | ENSP00000262613.5:p.Arg153Gln | |
| ENST00000413388.2:c.-11G>A | ENSP00000464982.1:n.-11G>A | |
| ENST00000583369.5:c.442-6119G>A | ENSP00000464321.1:n.442-6119G>A | |
| NM_004252.4:c.458G>A | NP_004243.1:p.Arg153Gln | |
| XR_002958087.1:n.677G>A | ||
| NM_004252.5:c.458G>A MANE Select | NP_004243.1:p.Arg153Gln |