Linked Data
ClinVar Variation Id:
1169473
dbSNP Id:
rs9808753
ExAC:
21:34787312 A / G
gnomAD v2:
21-34787312-A-G
gnomAD v3:
21-33415005-A-G
gnomAD v4:
21-33415005-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33415005A>G , CM000683.2:g.33415005A>G | GRCh38 |
| NC_000021.8:g.34787312A>G , CM000683.1:g.34787312A>G | GRCh37 |
| NC_000021.7:g.33709182A>G | NCBI36 |
| NG_007570.2:g.35014A>G , LRG_67:g.35014A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696724.1:c.86A>G | ENSP00000512835.1:p.Gln29Arg | |
| ENST00000290219.11:c.191A>G MANE Select | ENSP00000290219.5:p.Gln64Arg | |
| ENST00000290219.10:c.191A>G | ENSP00000290219.5:p.Gln64Arg | |
| ENST00000381995.5:c.248A>G | ENSP00000371425.1:p.Gln83Arg | |
| ENST00000405436.5:c.-47A>G | ENSP00000385044.1:n.-47A>G | |
| ENST00000439213.5:c.*166A>G | ENSP00000407541.1:n.*166A>G | |
| ENST00000545369.2:c.74-6475A>G | ENSP00000442735.2:n.74-6475A>G | |
| NM_005534.3:c.191A>G , LRG_67t1:c.191A>G | NP_005525.2:p.Gln64Arg | |
| XM_005260969.2:c.248A>G | XP_005261026.1:p.Gln83Arg | |
| XM_011529553.1:c.266A>G | XP_011527855.1:p.Gln89Arg | |
| XM_011529554.1:c.197A>G | XP_011527856.1:p.Gln66Arg | |
| NM_001329128.1:c.248A>G | NP_001316057.1:p.Gln83Arg | |
| XM_011529554.2:c.197A>G | XP_011527856.1:p.Gln66Arg | |
| NM_001329128.2:c.248A>G | NP_001316057.1:p.Gln83Arg | |
| NM_005534.4:c.191A>G MANE Select | NP_005525.2:p.Gln64Arg |