Linked Data
ClinVar Variation Id:
204797
dbSNP Id:
rs145750778
ExAC:
22:40760954 A / G
gnomAD v2:
22-40760954-A-G
gnomAD v3:
22-40364950-A-G
gnomAD v4:
22-40364950-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40364950A>G , CM000684.2:g.40364950A>G | GRCh38 |
| NC_000022.10:g.40760954A>G , CM000684.1:g.40760954A>G | GRCh37 |
| NC_000022.9:g.39090900A>G | NCBI36 |
| NG_007993.1:g.23451A>G | |
| NG_007993.2:g.23451A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*656A>G | ENSP00000485462.2:n.*656A>G | |
| ENST00000623287.4:c.*687A>G | ENSP00000485437.1:n.*687A>G | |
| ENST00000623632.4:c.953A>G | ENSP00000485288.2:p.Asn318Ser | |
| ENST00000625194.4:c.1304A>G | ENSP00000485289.2:p.Asn435Ser | |
| ENST00000636433.1:n.1284A>G | ||
| ENST00000636714.1:c.1262A>G | ENSP00000490946.1:p.Asn421Ser | |
| ENST00000637666.2:c.1191+585A>G | ENSP00000489696.2:n.1191+585A>G | |
| ENST00000637669.1:c.1262A>G | ENSP00000489728.1:p.Asn421Ser | |
| ENST00000639722.1:c.*958A>G | ENSP00000492828.1:n.*958A>G | |
| ENST00000674592.1:n.2776A>G | ||
| ENST00000675622.1:n.4329A>G | ||
| ENST00000679609.1:c.*872A>G | ENSP00000506592.1:n.*872A>G | |
| ENST00000679656.1:n.1947A>G | ||
| ENST00000679723.1:c.1217A>G | ENSP00000505155.1:p.Asn406Ser | |
| ENST00000679845.1:n.1570A>G | ||
| ENST00000679904.1:n.1658A>G | ||
| ENST00000680378.1:c.1349A>G | ENSP00000505556.1:p.Asn450Ser | |
| ENST00000680444.1:c.*625A>G | ENSP00000505298.1:n.*625A>G | |
| ENST00000680978.1:c.1262A>G | ENSP00000505244.1:p.Asn421Ser | |
| ENST00000681003.1:n.725A>G | ||
| ENST00000681159.1:n.2666A>G | ||
| ENST00000216194.11:c.1304A>G | ENSP00000216194.8:p.Asn435Ser | |
| ENST00000342312.9:c.1191+585A>G | ENSP00000341429.6:n.1191+585A>G | |
| ENST00000623063.3:c.1262A>G MANE Select | ENSP00000485525.1:p.Asn421Ser | |
| ENST00000623387.1:n.393A>G | ||
| ENST00000625194.3:c.891A>G | ||
| NM_000026.2:c.1262A>G | NP_000017.1:p.Asn421Ser | |
| NM_001123378.1:c.1191+585A>G | NP_001116850.1:n.1191+585A>G | |
| XM_011529976.1:c.1262A>G | XP_011528278.1:p.Asn421Ser | |
| XM_011529977.1:c.1262A>G | XP_011528279.1:p.Asn421Ser | |
| XM_011529978.1:c.1191+585A>G | XP_011528280.1:n.1191+585A>G | |
| XM_011529979.1:c.1262A>G | XP_011528281.1:p.Asn421Ser | |
| XM_011529980.1:c.1191+585A>G | XP_011528282.1:n.1191+585A>G | |
| XM_011529981.1:c.797A>G | XP_011528283.1:p.Asn266Ser | |
| XM_011529982.1:c.431A>G | XP_011528284.1:p.Asn144Ser | |
| XR_937824.1:n.1352A>G | ||
| XR_937825.1:n.1281+585A>G | ||
| NM_000026.3:c.1262A>G | NP_000017.1:p.Asn421Ser | |
| NM_001123378.2:c.1191+585A>G | NP_001116850.1:n.1191+585A>G | |
| NM_001317923.1:c.1070A>G | NP_001304852.1:p.Asn357Ser | |
| NM_001363840.1:c.1262A>G | NP_001350769.1:p.Asn421Ser | |
| NR_134256.1:n.1352A>G | ||
| XM_011529977.3:c.1262A>G | XP_011528279.1:p.Asn421Ser | |
| XM_011529980.3:c.1191+585A>G | XP_011528282.1:n.1191+585A>G | |
| XM_017028636.1:c.1217A>G | XP_016884125.1:p.Asn406Ser | |
| XM_017028637.1:c.1217A>G | XP_016884126.1:p.Asn406Ser | |
| XM_017028638.1:c.797A>G | XP_016884127.1:p.Asn266Ser | |
| XM_017028639.2:c.797A>G | XP_016884128.1:p.Asn266Ser | |
| XM_017028640.1:c.431A>G | XP_016884129.1:p.Asn144Ser | |
| XM_024452166.1:c.1146+585A>G | XP_024307934.1:n.1146+585A>G | |
| XR_001755176.2:n.1504A>G | ||
| XR_002958670.1:n.1289A>G | ||
| XR_937825.3:n.1279+585A>G | ||
| NM_000026.4:c.1262A>G MANE Select | NP_000017.1:p.Asn421Ser | |
| NM_001363840.2:c.1262A>G | NP_001350769.1:p.Asn421Ser | |
| NM_001123378.3:c.1191+585A>G | NP_001116850.1:n.1191+585A>G | |
| NM_001317923.2:c.1070A>G | NP_001304852.1:p.Asn357Ser | |
| NM_001363840.3:c.1262A>G | NP_001350769.1:p.Asn421Ser | |
| NR_134256.2:n.1352A>G |