Linked Data
ClinVar Variation Id:
3137910
ClinVar RCV Id:
RCV004430222
dbSNP Id:
rs1417021669
gnomAD v2:
11-6340517-T-C
gnomAD v4:
11-6319287-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319287T>C , CM000673.2:g.6319287T>C | GRCh38 |
| NC_000011.9:g.6340517T>C , CM000673.1:g.6340517T>C | GRCh37 |
| NC_000011.8:g.6297093T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.662A>G MANE Select | ENSP00000307292.3:p.Gln221Arg | |
| ENST00000303927.3:c.662A>G | ENSP00000307292.3:p.Gln221Arg | |
| ENST00000524852.1:n.448A>G | ||
| ENST00000530979.1:c.758A>G | ENSP00000432047.1:p.Gln253Arg | |
| ENST00000532354.1:n.684A>G | ||
| NM_145040.2:c.662A>G | NP_659477.2:p.Gln221Arg | |
| XR_930997.1:n.720+1067T>C | ||
| XR_242848.4:n.147T>C | ||
| NM_145040.3:c.662A>G MANE Select | NP_659477.2:p.Gln221Arg |