Linked Data
ClinVar Variation Id:
197527
dbSNP Id:
rs113591604
ExAC:
21:47863729 G / A
gnomAD v2:
21-47863729-G-A
gnomAD v3:
21-46443816-G-A
gnomAD v4:
21-46443816-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46443816G>A , CM000683.2:g.46443816G>A | GRCh38 |
| NC_000021.8:g.47863729G>A , CM000683.1:g.47863729G>A | GRCh37 |
| NC_000021.7:g.46688157G>A | NCBI36 |
| NG_008961.1:g.124694G>A | |
| NG_008961.2:g.124695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418394.2:c.2282+1243G>A | ||
| ENST00000695527.1:n.5288G>A | ||
| ENST00000695528.1:c.3740G>A | ENSP00000511990.1:p.Arg1247Gln | |
| ENST00000695529.1:n.3503G>A | ||
| ENST00000695530.1:c.2206-1468G>A | ||
| ENST00000695531.1:n.3309G>A | ||
| ENST00000695532.1:n.3302+1243G>A | ||
| ENST00000695533.1:n.2377G>A | ||
| ENST00000695534.1:n.2101G>A | ||
| ENST00000695535.1:n.1102+1243G>A | ||
| ENST00000695536.1:n.1014G>A | ||
| ENST00000695537.1:n.764-878G>A | ||
| ENST00000695558.1:c.9740G>A | ENSP00000512015.1:p.Arg3247Gln | |
| ENST00000703224.1:c.*8950G>A | ENSP00000515242.1:n.*8950G>A | |
| ENST00000703226.1:n.2377G>A | ||
| ENST00000359568.10:c.9707G>A MANE Select | ENSP00000352572.5:p.Arg3236Gln | |
| ENST00000359568.9:c.9707G>A | ENSP00000352572.5:p.Arg3236Gln | |
| ENST00000418394.1:c.642+1243G>A | ||
| ENST00000480896.5:n.9739G>A | ||
| NM_001315529.1:c.9116G>A | NP_001302458.1:p.Arg3039Gln | |
| NM_006031.5:c.9707G>A | NP_006022.3:p.Arg3236Gln | |
| XM_005261124.3:c.9740G>A | XP_005261181.1:p.Arg3247Gln | |
| XM_011529593.1:c.9818G>A | XP_011527895.1:p.Arg3273Gln | |
| XM_011529594.1:c.9788G>A | XP_011527896.1:p.Arg3263Gln | |
| XM_005261124.5:c.9740G>A | XP_005261181.1:p.Arg3247Gln | |
| XM_011529594.3:c.9788G>A | XP_011527896.1:p.Arg3263Gln | |
| XM_017028362.2:c.9470G>A | XP_016883851.1:p.Arg3157Gln | |
| XM_017028363.1:c.9386G>A | XP_016883852.1:p.Arg3129Gln | |
| XM_024452082.1:c.8624G>A | XP_024307850.1:p.Arg2875Gln | |
| XM_024452083.1:c.7520G>A | XP_024307851.1:p.Arg2507Gln | |
| NM_006031.6:c.9707G>A MANE Select | NP_006022.3:p.Arg3236Gln | |
| NM_001315529.2:c.9116G>A | NP_001302458.1:p.Arg3039Gln |