Linked Data
ClinVar Variation Id:
385204
dbSNP Id:
rs377164829
ExAC:
22:40757272 C / A
gnomAD v2:
22-40757272-C-A
gnomAD v3:
22-40361268-C-A
gnomAD v4:
22-40361268-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40361268C>A , CM000684.2:g.40361268C>A | GRCh38 |
| NC_000022.10:g.40757272C>A , CM000684.1:g.40757272C>A | GRCh37 |
| NC_000022.9:g.39087218C>A | NCBI36 |
| NG_007993.1:g.19769C>A | |
| NG_007993.2:g.19769C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*151C>A | ENSP00000485462.2:n.*151C>A | |
| ENST00000623287.4:c.*218-5C>A | ENSP00000485437.1:n.*218-5C>A | |
| ENST00000623632.4:c.792+776C>A | ENSP00000485288.2:n.792+776C>A | |
| ENST00000625194.4:c.793-5C>A | ENSP00000485289.2:n.793-5C>A | |
| ENST00000636265.1:c.793-5C>A | ENSP00000490909.1:n.793-5C>A | |
| ENST00000636433.1:n.815-5C>A | ||
| ENST00000636714.1:c.793-5C>A | ENSP00000490946.1:n.793-5C>A | |
| ENST00000637666.2:c.793-5C>A | ENSP00000489696.2:n.793-5C>A | |
| ENST00000637669.1:c.793-5C>A | ENSP00000489728.1:n.793-5C>A | |
| ENST00000639722.1:c.*489-5C>A | ENSP00000492828.1:n.*489-5C>A | |
| ENST00000674592.1:n.817-5C>A | ||
| ENST00000675622.1:n.3860-5C>A | ||
| ENST00000679609.1:c.*398C>A | ENSP00000506592.1:n.*398C>A | |
| ENST00000679656.1:n.1473C>A | ||
| ENST00000679723.1:c.748-5C>A | ENSP00000505155.1:n.748-5C>A | |
| ENST00000679845.1:n.1096C>A | ||
| ENST00000679904.1:n.1184C>A | ||
| ENST00000680378.1:c.880-5C>A | ENSP00000505556.1:n.880-5C>A | |
| ENST00000680444.1:c.*151C>A | ENSP00000505298.1:n.*151C>A | |
| ENST00000680978.1:c.793-5C>A | ENSP00000505244.1:n.793-5C>A | |
| ENST00000681003.1:n.225-5C>A | ||
| ENST00000681159.1:n.852-5C>A | ||
| ENST00000216194.11:c.835-5C>A | ENSP00000216194.8:n.835-5C>A | |
| ENST00000342312.9:c.793-5C>A | ENSP00000341429.6:n.793-5C>A | |
| ENST00000480775.2:c.387C>A | ||
| ENST00000623063.3:c.793-5C>A MANE Select | ENSP00000485525.1:n.793-5C>A | |
| ENST00000623287.3:c.*218-5C>A | ENSP00000485437.1:n.*218-5C>A | |
| ENST00000623632.3:c.748-5C>A | ENSP00000485288.1:n.748-5C>A | |
| ENST00000623978.3:c.253-5C>A | ENSP00000485477.1:n.253-5C>A | |
| ENST00000625194.3:c.380-5C>A | ||
| NM_000026.2:c.793-5C>A | NP_000017.1:n.793-5C>A | |
| NM_001123378.1:c.793-5C>A | NP_001116850.1:n.793-5C>A | |
| XM_011529976.1:c.793-5C>A | XP_011528278.1:n.793-5C>A | |
| XM_011529977.1:c.793-5C>A | XP_011528279.1:n.793-5C>A | |
| XM_011529978.1:c.793-5C>A | XP_011528280.1:n.793-5C>A | |
| XM_011529979.1:c.793-5C>A | XP_011528281.1:n.793-5C>A | |
| XM_011529980.1:c.793-5C>A | XP_011528282.1:n.793-5C>A | |
| XM_011529981.1:c.328-5C>A | XP_011528283.1:n.328-5C>A | |
| XM_011529982.1:c.-44C>A | XP_011528284.1:n.-44C>A | |
| XR_937824.1:n.852-5C>A | ||
| XR_937825.1:n.852-5C>A | ||
| XR_937826.1:n.1032C>A | ||
| NM_000026.3:c.793-5C>A | NP_000017.1:n.793-5C>A | |
| NM_001123378.2:c.793-5C>A | NP_001116850.1:n.793-5C>A | |
| NM_001317923.1:c.601-5C>A | NP_001304852.1:n.601-5C>A | |
| NM_001363840.1:c.793-5C>A | NP_001350769.1:n.793-5C>A | |
| NR_134256.1:n.852-5C>A | ||
| XM_011529977.3:c.793-5C>A | XP_011528279.1:n.793-5C>A | |
| XM_011529980.3:c.793-5C>A | XP_011528282.1:n.793-5C>A | |
| XM_017028636.1:c.748-5C>A | XP_016884125.1:n.748-5C>A | |
| XM_017028637.1:c.748-5C>A | XP_016884126.1:n.748-5C>A | |
| XM_017028638.1:c.328-5C>A | XP_016884127.1:n.328-5C>A | |
| XM_017028639.2:c.328-5C>A | XP_016884128.1:n.328-5C>A | |
| XM_017028640.1:c.-44C>A | XP_016884129.1:n.-44C>A | |
| XM_024452166.1:c.748-5C>A | XP_024307934.1:n.748-5C>A | |
| XR_001755176.2:n.1030C>A | ||
| XR_002958670.1:n.789-5C>A | ||
| XR_002958671.1:n.1030C>A | ||
| XR_937825.3:n.850-5C>A | ||
| NM_000026.4:c.793-5C>A MANE Select | NP_000017.1:n.793-5C>A | |
| NM_001363840.2:c.793-5C>A | NP_001350769.1:n.793-5C>A | |
| NM_001123378.3:c.793-5C>A | NP_001116850.1:n.793-5C>A | |
| NM_001317923.2:c.601-5C>A | NP_001304852.1:n.601-5C>A | |
| NM_001363840.3:c.793-5C>A | NP_001350769.1:n.793-5C>A | |
| NR_134256.2:n.852-5C>A |