Linked Data
ClinVar Variation Id:
459620
dbSNP Id:
rs755059672
ExAC:
22:40757516 G / A
gnomAD v2:
22-40757516-G-A
gnomAD v3:
22-40361512-G-A
gnomAD v4:
22-40361512-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40361512G>A , CM000684.2:g.40361512G>A | GRCh38 |
| NC_000022.10:g.40757516G>A , CM000684.1:g.40757516G>A | GRCh37 |
| NC_000022.9:g.39087462G>A | NCBI36 |
| NG_007993.1:g.20013G>A | |
| NG_007993.2:g.20013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*250G>A | ENSP00000485462.2:n.*250G>A | |
| ENST00000623287.4:c.*312G>A | ENSP00000485437.1:n.*312G>A | |
| ENST00000623632.4:c.792+1020G>A | ENSP00000485288.2:n.792+1020G>A | |
| ENST00000625194.4:c.887G>A | ENSP00000485289.2:p.Arg296Gln | |
| ENST00000636265.1:c.887G>A | ENSP00000490909.1:p.Arg296Gln | |
| ENST00000636433.1:n.909G>A | ||
| ENST00000636714.1:c.887G>A | ENSP00000490946.1:p.Arg296Gln | |
| ENST00000637666.2:c.887G>A | ENSP00000489696.2:p.Arg296Gln | |
| ENST00000637669.1:c.887G>A | ENSP00000489728.1:p.Arg296Gln | |
| ENST00000639722.1:c.*583G>A | ENSP00000492828.1:n.*583G>A | |
| ENST00000674592.1:n.1056G>A | ||
| ENST00000675622.1:n.3954G>A | ||
| ENST00000679609.1:c.*497G>A | ENSP00000506592.1:n.*497G>A | |
| ENST00000679656.1:n.1572G>A | ||
| ENST00000679723.1:c.842G>A | ENSP00000505155.1:p.Arg281Gln | |
| ENST00000679845.1:n.1195G>A | ||
| ENST00000679904.1:n.1283G>A | ||
| ENST00000680378.1:c.974G>A | ENSP00000505556.1:p.Arg325Gln | |
| ENST00000680444.1:c.*250G>A | ENSP00000505298.1:n.*250G>A | |
| ENST00000680978.1:c.887G>A | ENSP00000505244.1:p.Arg296Gln | |
| ENST00000681003.1:n.319G>A | ||
| ENST00000681159.1:n.946G>A | ||
| ENST00000216194.11:c.929G>A | ENSP00000216194.8:p.Arg310Gln | |
| ENST00000342312.9:c.887G>A | ENSP00000341429.6:p.Arg296Gln | |
| ENST00000480775.2:c.486G>A | ||
| ENST00000623063.3:c.887G>A MANE Select | ENSP00000485525.1:p.Arg296Gln | |
| ENST00000623287.3:c.*312G>A | ENSP00000485437.1:n.*312G>A | |
| ENST00000623978.3:c.347G>A | ENSP00000485477.1:p.Arg116Gln | |
| ENST00000625194.3:c.474G>A | ||
| NM_000026.2:c.887G>A | NP_000017.1:p.Arg296Gln | |
| NM_001123378.1:c.887G>A | NP_001116850.1:p.Arg296Gln | |
| XM_011529976.1:c.887G>A | XP_011528278.1:p.Arg296Gln | |
| XM_011529977.1:c.887G>A | XP_011528279.1:p.Arg296Gln | |
| XM_011529978.1:c.887G>A | XP_011528280.1:p.Arg296Gln | |
| XM_011529979.1:c.887G>A | XP_011528281.1:p.Arg296Gln | |
| XM_011529980.1:c.887G>A | XP_011528282.1:p.Arg296Gln | |
| XM_011529981.1:c.422G>A | XP_011528283.1:p.Arg141Gln | |
| XM_011529982.1:c.56G>A | XP_011528284.1:p.Arg19Gln | |
| XR_937824.1:n.946G>A | ||
| XR_937825.1:n.946G>A | ||
| XR_937826.1:n.1131G>A | ||
| NM_000026.3:c.887G>A | NP_000017.1:p.Arg296Gln | |
| NM_001123378.2:c.887G>A | NP_001116850.1:p.Arg296Gln | |
| NM_001317923.1:c.695G>A | NP_001304852.1:p.Arg232Gln | |
| NM_001363840.1:c.887G>A | NP_001350769.1:p.Arg296Gln | |
| NR_134256.1:n.946G>A | ||
| XM_011529977.3:c.887G>A | XP_011528279.1:p.Arg296Gln | |
| XM_011529980.3:c.887G>A | XP_011528282.1:p.Arg296Gln | |
| XM_017028636.1:c.842G>A | XP_016884125.1:p.Arg281Gln | |
| XM_017028637.1:c.842G>A | XP_016884126.1:p.Arg281Gln | |
| XM_017028638.1:c.422G>A | XP_016884127.1:p.Arg141Gln | |
| XM_017028639.2:c.422G>A | XP_016884128.1:p.Arg141Gln | |
| XM_017028640.1:c.56G>A | XP_016884129.1:p.Arg19Gln | |
| XM_024452166.1:c.842G>A | XP_024307934.1:p.Arg281Gln | |
| XR_001755176.2:n.1129G>A | ||
| XR_002958670.1:n.883G>A | ||
| XR_002958671.1:n.1129G>A | ||
| XR_937825.3:n.944G>A | ||
| NM_000026.4:c.887G>A MANE Select | NP_000017.1:p.Arg296Gln | |
| NM_001363840.2:c.887G>A | NP_001350769.1:p.Arg296Gln | |
| NM_001123378.3:c.887G>A | NP_001116850.1:p.Arg296Gln | |
| NM_001317923.2:c.695G>A | NP_001304852.1:p.Arg232Gln | |
| NM_001363840.3:c.887G>A | NP_001350769.1:p.Arg296Gln | |
| NR_134256.2:n.946G>A |