Linked Data
ClinVar Variation Id:
159671
dbSNP Id:
rs2073376
ExAC:
21:47851753 A / G
gnomAD v2:
21-47851753-A-G
gnomAD v3:
21-46431839-A-G
gnomAD v4:
21-46431839-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46431839A>G , CM000683.2:g.46431839A>G | GRCh38 |
| NC_000021.8:g.47851753A>G , CM000683.1:g.47851753A>G | GRCh37 |
| NC_000021.7:g.46676181A>G | NCBI36 |
| NG_008961.1:g.112718A>G | |
| NG_008961.2:g.112718A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418394.2:c.1194A>G | ||
| ENST00000695527.1:n.2720A>G | ||
| ENST00000695528.1:c.2408A>G | ENSP00000511990.1:p.Gln803Arg | |
| ENST00000695529.1:n.2408A>G | ||
| ENST00000695530.1:c.1194A>G | ||
| ENST00000695531.1:n.1977A>G | ||
| ENST00000695532.1:n.1977A>G | ||
| ENST00000695533.1:n.1045A>G | ||
| ENST00000695534.1:n.1006A>G | ||
| ENST00000695558.1:c.8408A>G | ENSP00000512015.1:p.Gln2803Arg | |
| ENST00000703224.1:c.*7618A>G | ENSP00000515242.1:n.*7618A>G | |
| ENST00000703226.1:n.1045A>G | ||
| ENST00000359568.10:c.8375A>G MANE Select | ENSP00000352572.5:p.Gln2792Arg | |
| ENST00000359568.9:c.8375A>G | ENSP00000352572.5:p.Gln2792Arg | |
| ENST00000480896.5:n.8644A>G | ||
| ENST00000482575.1:n.382A>G | ||
| NM_001315529.1:c.8021A>G | NP_001302458.1:p.Gln2674Arg | |
| NM_006031.5:c.8375A>G | NP_006022.3:p.Gln2792Arg | |
| XM_005261124.3:c.8408A>G | XP_005261181.1:p.Gln2803Arg | |
| XM_011529593.1:c.8486A>G | XP_011527895.1:p.Gln2829Arg | |
| XM_011529594.1:c.8456A>G | XP_011527896.1:p.Gln2819Arg | |
| XM_005261124.5:c.8408A>G | XP_005261181.1:p.Gln2803Arg | |
| XM_011529594.3:c.8456A>G | XP_011527896.1:p.Gln2819Arg | |
| XM_017028362.2:c.8375A>G | XP_016883851.1:p.Gln2792Arg | |
| XM_017028363.1:c.8054A>G | XP_016883852.1:p.Gln2685Arg | |
| XM_024452082.1:c.7292A>G | XP_024307850.1:p.Gln2431Arg | |
| XM_024452083.1:c.6188A>G | XP_024307851.1:p.Gln2063Arg | |
| NM_006031.6:c.8375A>G MANE Select | NP_006022.3:p.Gln2792Arg | |
| NM_001315529.2:c.8021A>G | NP_001302458.1:p.Gln2674Arg |