Linked Data
ClinVar Variation Id:
246285
dbSNP Id:
rs879254192
gnomAD v2:
8-75276343-G-A
gnomAD v4:
8-74364108-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74364108G>A , CM000670.2:g.74364108G>A | GRCh38 |
| NC_000008.10:g.75276343G>A , CM000670.1:g.75276343G>A | GRCh37 |
| NC_000008.9:g.75438898G>A | NCBI36 |
| NG_008787.2:g.47979G>A | |
| NG_008787.3:g.47979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220822.12:c.818G>A MANE Select | ENSP00000220822.7:p.Arg273Gln | |
| ENST00000434412.3:c.686G>A | ENSP00000417006.3:p.Arg229Gln | |
| ENST00000520797.6:n.929G>A | ||
| ENST00000521096.6:n.674G>A | ||
| ENST00000522568.2:c.*490G>A | ENSP00000430136.1:n.*490G>A | |
| ENST00000523640.2:c.165+12787G>A | ENSP00000502017.1:n.165+12787G>A | |
| ENST00000524195.2:c.280+1055G>A | ENSP00000502308.1:n.280+1055G>A | |
| ENST00000674612.1:c.491G>A | ENSP00000501864.1:p.Arg164Gln | |
| ENST00000674710.1:c.694+1055G>A | ENSP00000502762.1:n.694+1055G>A | |
| ENST00000674754.1:c.*2381G>A | ENSP00000502063.1:n.*2381G>A | |
| ENST00000674756.1:c.*366+1055G>A | ENSP00000501860.1:n.*366+1055G>A | |
| ENST00000674806.1:c.491G>A | ENSP00000502637.1:p.Arg164Gln | |
| ENST00000674865.1:c.614G>A | ENSP00000502437.1:p.Arg205Gln | |
| ENST00000674926.1:c.*1450G>A | ENSP00000501799.1:n.*1450G>A | |
| ENST00000674934.1:c.*506G>A | ENSP00000502187.1:n.*506G>A | |
| ENST00000674944.1:c.*1421G>A | ENSP00000501858.1:n.*1421G>A | |
| ENST00000674946.1:c.694+1055G>A | ENSP00000501569.1:n.694+1055G>A | |
| ENST00000674973.1:c.512G>A | ENSP00000502447.1:p.Arg171Gln | |
| ENST00000675007.1:c.*556G>A | ENSP00000502119.1:n.*556G>A | |
| ENST00000675060.1:c.*483G>A | ENSP00000501616.1:n.*483G>A | |
| ENST00000675165.1:c.815G>A | ENSP00000502612.1:p.Arg272Gln | |
| ENST00000675220.1:c.491G>A | ENSP00000502588.1:p.Arg164Gln | |
| ENST00000675265.1:c.*568G>A | ENSP00000501848.1:n.*568G>A | |
| ENST00000675336.1:c.*304G>A | ENSP00000502120.1:n.*304G>A | |
| ENST00000675376.1:c.491G>A | ENSP00000502838.1:p.Arg164Gln | |
| ENST00000675463.1:c.896G>A | ENSP00000502327.1:p.Arg299Gln | |
| ENST00000675472.1:c.*304G>A | ENSP00000501946.1:n.*304G>A | |
| ENST00000675474.1:n.403G>A | ||
| ENST00000675560.1:c.*366+1055G>A | ENSP00000502118.1:n.*366+1055G>A | |
| ENST00000675625.1:c.*490G>A | ENSP00000501626.1:n.*490G>A | |
| ENST00000675633.1:c.*225G>A | ENSP00000501785.1:n.*225G>A | |
| ENST00000675661.1:c.*578G>A | ENSP00000501958.1:n.*578G>A | |
| ENST00000675706.1:n.2776G>A | ||
| ENST00000675821.1:c.491G>A | ENSP00000502198.1:p.Arg164Gln | |
| ENST00000675832.1:c.*490G>A | ENSP00000502041.1:n.*490G>A | |
| ENST00000675928.1:c.644G>A | ENSP00000501568.1:p.Arg215Gln | |
| ENST00000675944.1:c.614G>A | ENSP00000502673.1:p.Arg205Gln | |
| ENST00000675999.1:c.694+1055G>A | ENSP00000502572.1:n.694+1055G>A | |
| ENST00000676049.1:c.*720G>A | ENSP00000501912.1:n.*720G>A | |
| ENST00000676112.1:c.884G>A | ENSP00000502295.1:p.Arg295Gln | |
| ENST00000676143.1:c.491G>A | ENSP00000502828.1:p.Arg164Gln | |
| ENST00000676207.1:c.694+1055G>A | ENSP00000502638.1:n.694+1055G>A | |
| ENST00000676377.1:c.491G>A | ENSP00000502756.1:p.Arg164Gln | |
| ENST00000676415.1:c.*124G>A | ENSP00000502665.1:n.*124G>A | |
| ENST00000676443.1:c.770G>A | ENSP00000501769.1:p.Arg257Gln | |
| ENST00000220822.11:c.818G>A | ENSP00000220822.7:p.Arg273Gln | |
| ENST00000434412.2:c.614G>A | ENSP00000417006.2:p.Arg205Gln | |
| ENST00000520797.5:n.583G>A | ||
| ENST00000521096.5:n.624G>A | ||
| ENST00000522568.1:c.*490G>A | ENSP00000430136.1:n.*490G>A | |
| ENST00000524195.1:n.103+1055G>A | ||
| NM_001040875.2:c.614G>A | NP_001035808.1:p.Arg205Gln | |
| NM_018972.2:c.818G>A | NP_061845.2:p.Arg273Gln | |
| NR_046346.1:n.752G>A | ||
| XM_011517551.1:c.1112G>A | XP_011515853.1:p.Arg371Gln | |
| XM_011517552.1:c.491G>A | XP_011515854.1:p.Arg164Gln | |
| NM_001040875.3:c.614G>A | NP_001035808.1:p.Arg205Gln | |
| NM_001362929.1:c.491G>A | NP_001349858.1:p.Arg164Gln | |
| NM_001362930.1:c.644G>A | NP_001349859.1:p.Arg215Gln | |
| NM_001362931.1:c.694+1055G>A | NP_001349860.1:n.694+1055G>A | |
| NM_001362932.1:c.491G>A | NP_001349861.1:p.Arg164Gln | |
| NM_018972.3:c.818G>A | NP_061845.2:p.Arg273Gln | |
| NM_001362931.2:c.694+1055G>A | NP_001349860.1:n.694+1055G>A | |
| NM_018972.4:c.818G>A MANE Select | NP_061845.2:p.Arg273Gln | |
| NM_001040875.4:c.614G>A | NP_001035808.1:p.Arg205Gln | |
| NM_001362929.2:c.491G>A | NP_001349858.1:p.Arg164Gln | |
| NM_001362930.2:c.644G>A | NP_001349859.1:p.Arg215Gln | |
| NM_001362932.2:c.491G>A | NP_001349861.1:p.Arg164Gln |