This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00064881 (AMR)
Genomes Max Group AF
0.00030717 (AMR)
Exomes Max Group AF
0.0006943 (AMR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41753990A>G , CM000684.2:g.41753990A>G | GRCh38 |
| NC_000022.10:g.42149994A>G , CM000684.1:g.42149994A>G | GRCh37 |
| NC_000022.9:g.40479940A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401548.8:c.1895A>G MANE Select | ENSP00000384115.3:p.Tyr632Cys | |
| ENST00000651135.1:n.1988A>G | ||
| ENST00000401548.7:c.1895A>G | ENSP00000384115.3:p.Tyr632Cys | |
| ENST00000460702.1:n.408A>G | ||
| ENST00000476614.1:n.177A>G | ||
| ENST00000482055.5:n.148+1339A>G | ||
| ENST00000492484.5:n.234A>G | ||
| ENST00000540833.1:c.1115A>G | ENSP00000444225.1:p.Tyr372Cys | |
| NM_152513.3:c.1895A>G | NP_689726.3:p.Tyr632Cys | |
| XM_011529935.1:c.1854-24A>G | XP_011528237.1:n.1854-24A>G | |
| XM_011529936.1:c.1895A>G | XP_011528238.1:p.Tyr632Cys | |
| XM_011529937.1:c.1895A>G | XP_011528239.1:p.Tyr632Cys | |
| XM_011529938.1:c.1778A>G | XP_011528240.1:p.Tyr593Cys | |
| XM_011529939.1:c.1895A>G | XP_011528241.1:p.Tyr632Cys | |
| XM_011529940.1:c.1895A>G | XP_011528242.1:p.Tyr632Cys | |
| XM_011529941.1:c.1895A>G | XP_011528243.1:p.Tyr632Cys | |
| XM_011529942.1:c.1703A>G | XP_011528244.1:p.Tyr568Cys | |
| XM_011529943.1:c.1895A>G | XP_011528245.1:p.Tyr632Cys | |
| XM_011529944.1:c.1895A>G | XP_011528246.1:p.Tyr632Cys | |
| XM_011529945.1:c.1895A>G | XP_011528247.1:p.Tyr632Cys | |
| XM_011529946.1:c.1434A>G | XP_011528248.1:p.Leu478= | |
| XM_011529947.1:c.1373A>G | XP_011528249.1:p.Tyr458Cys | |
| XM_011529948.1:c.1286A>G | XP_011528250.1:p.Tyr429Cys | |
| XM_011529949.1:c.1121A>G | XP_011528251.1:p.Tyr374Cys | |
| XM_011529950.1:c.1895A>G | XP_011528252.1:p.Tyr632Cys | |
| XM_011529951.1:c.1895A>G | XP_011528253.1:p.Tyr632Cys | |
| XM_011529952.1:c.809A>G | XP_011528254.1:p.Tyr270Cys | |
| XM_011529953.1:c.1895A>G | XP_011528255.1:p.Tyr632Cys | |
| XM_011529954.1:c.518A>G | XP_011528256.1:p.Tyr173Cys | |
| XM_011529955.1:c.1895A>G | XP_011528257.1:p.Tyr632Cys | |
| XM_011529956.1:c.1895A>G | XP_011528258.1:p.Tyr632Cys | |
| XR_937816.1:n.1929A>G | ||
| XR_937817.1:n.1929A>G | ||
| XR_937818.1:n.1929A>G | ||
| XR_937819.1:n.1929A>G | ||
| XR_937820.1:n.1929A>G | ||
| XR_937821.1:n.1929A>G | ||
| XR_937822.1:n.1929A>G | ||
| XM_011529935.2:c.1854-24A>G | XP_011528237.1:n.1854-24A>G | |
| XM_011529936.2:c.1895A>G | XP_011528238.1:p.Tyr632Cys | |
| XM_011529937.2:c.1895A>G | XP_011528239.1:p.Tyr632Cys | |
| XM_011529938.2:c.1778A>G | XP_011528240.1:p.Tyr593Cys | |
| XM_011529939.2:c.1895A>G | XP_011528241.1:p.Tyr632Cys | |
| XM_011529940.2:c.1895A>G | XP_011528242.1:p.Tyr632Cys | |
| XM_011529941.2:c.1895A>G | XP_011528243.1:p.Tyr632Cys | |
| XM_011529942.3:c.1703A>G | XP_011528244.1:p.Tyr568Cys | |
| XM_011529943.2:c.1895A>G | XP_011528245.1:p.Tyr632Cys | |
| XM_011529944.2:c.1895A>G | XP_011528246.1:p.Tyr632Cys | |
| XM_011529945.3:c.1895A>G | XP_011528247.1:p.Tyr632Cys | |
| XM_011529946.2:c.1434A>G | XP_011528248.1:p.Leu478= | |
| XM_011529947.2:c.1373A>G | XP_011528249.1:p.Tyr458Cys | |
| XM_011529948.3:c.1286A>G | XP_011528250.1:p.Tyr429Cys | |
| XM_011529949.2:c.1121A>G | XP_011528251.1:p.Tyr374Cys | |
| XM_011529952.2:c.809A>G | XP_011528254.1:p.Tyr270Cys | |
| XM_011529954.2:c.518A>G | XP_011528256.1:p.Tyr173Cys | |
| XM_011529956.2:c.1895A>G | XP_011528258.1:p.Tyr632Cys | |
| XM_017028633.2:c.1895A>G | XP_016884122.1:p.Tyr632Cys | |
| XM_024452164.1:c.1895A>G | XP_024307932.1:p.Tyr632Cys | |
| XR_001755172.2:n.1929A>G | ||
| XR_001755173.2:n.1888-24A>G | ||
| XR_001755174.1:n.1929A>G | ||
| XR_937816.2:n.1929A>G | ||
| XR_937817.2:n.1929A>G | ||
| XR_937818.2:n.1929A>G | ||
| XR_937821.2:n.1929A>G | ||
| XR_937822.3:n.1929A>G | ||
| NM_152513.4:c.1895A>G MANE Select | NP_689726.3:p.Tyr632Cys |