Linked Data
ClinVar Variation Id:
1346867
ClinVar RCV Id:
RCV002030225
dbSNP Id:
rs375385797
gnomAD v2:
3-180377316-T-C
gnomAD v3:
3-180659528-T-C
gnomAD v4:
3-180659528-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659528T>C , CM000665.2:g.180659528T>C | GRCh38 |
| NC_000003.11:g.180377316T>C , CM000665.1:g.180377316T>C | GRCh37 |
| NC_000003.10:g.181860010T>C | NCBI36 |
| NG_029581.1:g.24968A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.662A>G MANE Select | ENSP00000417960.2:p.Gln221Arg | |
| ENST00000650641.1:n.741A>G | ||
| ENST00000650889.1:n.834A>G | ||
| ENST00000651046.1:c.662A>G | ENSP00000499175.1:p.Gln221Arg | |
| ENST00000651818.1:n.804A>G | ||
| ENST00000652024.1:n.753A>G | ||
| ENST00000652408.1:n.799A>G | ||
| ENST00000442201.6:c.662A>G | ENSP00000405708.2:p.Gln221Arg | |
| ENST00000476379.5:c.662A>G | ENSP00000417960.1:p.Gln221Arg | |
| NM_181426.1:c.662A>G | NP_852091.1:p.Gln221Arg | |
| NM_181426.2:c.662A>G MANE Select | NP_852091.1:p.Gln221Arg |