Linked Data
ClinVar Variation Id:
92305
dbSNP Id:
rs192303222
ExAC:
22:40760290 G / A
gnomAD v2:
22-40760290-G-A
gnomAD v3:
22-40364286-G-A
gnomAD v4:
22-40364286-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40364286G>A , CM000684.2:g.40364286G>A | GRCh38 |
| NC_000022.10:g.40760290G>A , CM000684.1:g.40760290G>A | GRCh37 |
| NC_000022.9:g.39090236G>A | NCBI36 |
| NG_007993.1:g.22787G>A | |
| NG_007993.2:g.22787G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*506G>A | ENSP00000485462.2:n.*506G>A | |
| ENST00000623287.4:c.*537G>A | ENSP00000485437.1:n.*537G>A | |
| ENST00000623632.4:c.803G>A | ENSP00000485288.2:p.Arg268Gln | |
| ENST00000625194.4:c.1154G>A | ENSP00000485289.2:p.Arg385Gln | |
| ENST00000636265.1:c.1133G>A | ENSP00000490909.1:p.Arg378Gln | |
| ENST00000636433.1:n.1134G>A | ||
| ENST00000636714.1:c.1112G>A | ENSP00000490946.1:p.Arg371Gln | |
| ENST00000637666.2:c.1112G>A | ENSP00000489696.2:p.Arg371Gln | |
| ENST00000637669.1:c.1112G>A | ENSP00000489728.1:p.Arg371Gln | |
| ENST00000639722.1:c.*808G>A | ENSP00000492828.1:n.*808G>A | |
| ENST00000674592.1:n.2626G>A | ||
| ENST00000675622.1:n.4179G>A | ||
| ENST00000679609.1:c.*722G>A | ENSP00000506592.1:n.*722G>A | |
| ENST00000679656.1:n.1797G>A | ||
| ENST00000679723.1:c.1067G>A | ENSP00000505155.1:p.Arg356Gln | |
| ENST00000679845.1:n.1420G>A | ||
| ENST00000679904.1:n.1508G>A | ||
| ENST00000680378.1:c.1199G>A | ENSP00000505556.1:p.Arg400Gln | |
| ENST00000680444.1:c.*475G>A | ENSP00000505298.1:n.*475G>A | |
| ENST00000680978.1:c.1112G>A | ENSP00000505244.1:p.Arg371Gln | |
| ENST00000681003.1:n.575G>A | ||
| ENST00000681159.1:n.2516G>A | ||
| ENST00000216194.11:c.1154G>A | ENSP00000216194.8:p.Arg385Gln | |
| ENST00000342312.9:c.1112G>A | ENSP00000341429.6:p.Arg371Gln | |
| ENST00000623063.3:c.1112G>A MANE Select | ENSP00000485525.1:p.Arg371Gln | |
| ENST00000625194.3:c.741G>A | ||
| NM_000026.2:c.1112G>A | NP_000017.1:p.Arg371Gln | |
| NM_001123378.1:c.1112G>A | NP_001116850.1:p.Arg371Gln | |
| XM_011529976.1:c.1112G>A | XP_011528278.1:p.Arg371Gln | |
| XM_011529977.1:c.1112G>A | XP_011528279.1:p.Arg371Gln | |
| XM_011529978.1:c.1112G>A | XP_011528280.1:p.Arg371Gln | |
| XM_011529979.1:c.1112G>A | XP_011528281.1:p.Arg371Gln | |
| XM_011529980.1:c.1112G>A | XP_011528282.1:p.Arg371Gln | |
| XM_011529981.1:c.647G>A | XP_011528283.1:p.Arg216Gln | |
| XM_011529982.1:c.281G>A | XP_011528284.1:p.Arg94Gln | |
| XR_937824.1:n.1202G>A | ||
| XR_937825.1:n.1202G>A | ||
| NM_000026.3:c.1112G>A | NP_000017.1:p.Arg371Gln | |
| NM_001123378.2:c.1112G>A | NP_001116850.1:p.Arg371Gln | |
| NM_001317923.1:c.920G>A | NP_001304852.1:p.Arg307Gln | |
| NM_001363840.1:c.1112G>A | NP_001350769.1:p.Arg371Gln | |
| NR_134256.1:n.1202G>A | ||
| XM_011529977.3:c.1112G>A | XP_011528279.1:p.Arg371Gln | |
| XM_011529980.3:c.1112G>A | XP_011528282.1:p.Arg371Gln | |
| XM_017028636.1:c.1067G>A | XP_016884125.1:p.Arg356Gln | |
| XM_017028637.1:c.1067G>A | XP_016884126.1:p.Arg356Gln | |
| XM_017028638.1:c.647G>A | XP_016884127.1:p.Arg216Gln | |
| XM_017028639.2:c.647G>A | XP_016884128.1:p.Arg216Gln | |
| XM_017028640.1:c.281G>A | XP_016884129.1:p.Arg94Gln | |
| XM_024452166.1:c.1067G>A | XP_024307934.1:p.Arg356Gln | |
| XR_001755176.2:n.1354G>A | ||
| XR_002958670.1:n.1139G>A | ||
| XR_937825.3:n.1200G>A | ||
| NM_000026.4:c.1112G>A MANE Select | NP_000017.1:p.Arg371Gln | |
| NM_001363840.2:c.1112G>A | NP_001350769.1:p.Arg371Gln | |
| NM_001123378.3:c.1112G>A | NP_001116850.1:p.Arg371Gln | |
| NM_001317923.2:c.920G>A | NP_001304852.1:p.Arg307Gln | |
| NM_001363840.3:c.1112G>A | NP_001350769.1:p.Arg371Gln | |
| NR_134256.2:n.1202G>A |