Linked Data
ClinVar Variation Id:
525559
dbSNP Id:
rs201157338
ExAC:
3:180379734 T / C
gnomAD v2:
3-180379734-T-C
gnomAD v3:
3-180661946-T-C
gnomAD v4:
3-180661946-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180661946T>C , CM000665.2:g.180661946T>C | GRCh38 |
| NC_000003.11:g.180379734T>C , CM000665.1:g.180379734T>C | GRCh37 |
| NC_000003.10:g.181862428T>C | NCBI36 |
| NG_029581.1:g.22550A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.272A>G MANE Select | ENSP00000417960.2:p.Gln91Arg | |
| ENST00000650641.1:n.351A>G | ||
| ENST00000650889.1:n.444A>G | ||
| ENST00000651046.1:c.272A>G | ENSP00000499175.1:p.Gln91Arg | |
| ENST00000651818.1:n.414A>G | ||
| ENST00000652024.1:n.363A>G | ||
| ENST00000652408.1:n.409A>G | ||
| ENST00000442201.6:c.272A>G | ENSP00000405708.2:p.Gln91Arg | |
| ENST00000471307.6:c.218A>G | ENSP00000418702.2:p.Gln73Arg | |
| ENST00000476379.5:c.272A>G | ENSP00000417960.1:p.Gln91Arg | |
| NM_181426.1:c.272A>G | NP_852091.1:p.Gln91Arg | |
| NM_181426.2:c.272A>G MANE Select | NP_852091.1:p.Gln91Arg |