Linked Data
ClinVar Variation Id:
211869
dbSNP Id:
rs147189224
ExAC:
21:47832836 A / G
gnomAD v2:
21-47832836-A-G
gnomAD v3:
21-46412922-A-G
gnomAD v4:
21-46412922-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46412922A>G , CM000683.2:g.46412922A>G | GRCh38 |
| NC_000021.8:g.47832836A>G , CM000683.1:g.47832836A>G | GRCh37 |
| NC_000021.7:g.46657264A>G | NCBI36 |
| NG_008961.1:g.93801A>G | |
| NG_008961.2:g.93801A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695527.1:n.425A>G | ||
| ENST00000695528.1:c.254A>G | ENSP00000511990.1:p.Gln85Arg | |
| ENST00000695529.1:n.254A>G | ||
| ENST00000695558.1:c.6113A>G | ENSP00000512015.1:p.Gln2038Arg | |
| ENST00000703224.1:c.*5323A>G | ENSP00000515242.1:n.*5323A>G | |
| ENST00000359568.10:c.6080A>G MANE Select | ENSP00000352572.5:p.Gln2027Arg | |
| ENST00000359568.9:c.6080A>G | ENSP00000352572.5:p.Gln2027Arg | |
| ENST00000480896.5:n.6349A>G | ||
| NM_001315529.1:c.5726A>G | NP_001302458.1:p.Gln1909Arg | |
| NM_006031.5:c.6080A>G | NP_006022.3:p.Gln2027Arg | |
| XM_005261124.3:c.6113A>G | XP_005261181.1:p.Gln2038Arg | |
| XM_011529593.1:c.6191A>G | XP_011527895.1:p.Gln2064Arg | |
| XM_011529594.1:c.6161A>G | XP_011527896.1:p.Gln2054Arg | |
| XM_005261124.5:c.6113A>G | XP_005261181.1:p.Gln2038Arg | |
| XM_011529594.3:c.6161A>G | XP_011527896.1:p.Gln2054Arg | |
| XM_017028362.2:c.6080A>G | XP_016883851.1:p.Gln2027Arg | |
| XM_017028363.1:c.5759A>G | XP_016883852.1:p.Gln1920Arg | |
| XM_024452082.1:c.4997A>G | XP_024307850.1:p.Gln1666Arg | |
| XM_024452083.1:c.3893A>G | XP_024307851.1:p.Gln1298Arg | |
| NM_006031.6:c.6080A>G MANE Select | NP_006022.3:p.Gln2027Arg | |
| NM_001315529.2:c.5726A>G | NP_001302458.1:p.Gln1909Arg |