This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41763301A>G , CM000684.2:g.41763301A>G | GRCh38 |
| NC_000022.10:g.42159305A>G , CM000684.1:g.42159305A>G | GRCh37 |
| NC_000022.9:g.40489251A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401548.8:c.2248A>G MANE Select | ENSP00000384115.3:p.Lys750Glu | |
| ENST00000651135.1:n.2341A>G | ||
| ENST00000401548.7:c.2248A>G | ENSP00000384115.3:p.Lys750Glu | |
| ENST00000476614.1:n.530A>G | ||
| ENST00000482055.5:n.445A>G | ||
| ENST00000540833.1:c.1468A>G | ENSP00000444225.1:p.Lys490Glu | |
| NM_152513.3:c.2248A>G | NP_689726.3:p.Lys750Glu | |
| XM_011529935.1:c.2212A>G | XP_011528237.1:p.Lys738Glu | |
| XM_011529936.1:c.2248A>G | XP_011528238.1:p.Lys750Glu | |
| XM_011529937.1:c.2248A>G | XP_011528239.1:p.Lys750Glu | |
| XM_011529938.1:c.2131A>G | XP_011528240.1:p.Lys711Glu | |
| XM_011529939.1:c.2248A>G | XP_011528241.1:p.Lys750Glu | |
| XM_011529940.1:c.2248A>G | XP_011528242.1:p.Lys750Glu | |
| XM_011529941.1:c.2248A>G | XP_011528243.1:p.Lys750Glu | |
| XM_011529942.1:c.2056A>G | XP_011528244.1:p.Lys686Glu | |
| XM_011529943.1:c.2248A>G | XP_011528245.1:p.Lys750Glu | |
| XM_011529944.1:c.2248A>G | XP_011528246.1:p.Lys750Glu | |
| XM_011529945.1:c.2248A>G | XP_011528247.1:p.Lys750Glu | |
| XM_011529946.1:c.1816A>G | XP_011528248.1:p.Lys606Glu | |
| XM_011529947.1:c.1726A>G | XP_011528249.1:p.Lys576Glu | |
| XM_011529948.1:c.1639A>G | XP_011528250.1:p.Lys547Glu | |
| XM_011529949.1:c.1474A>G | XP_011528251.1:p.Lys492Glu | |
| XM_011529950.1:c.2248A>G | XP_011528252.1:p.Lys750Glu | |
| XM_011529951.1:c.2248A>G | XP_011528253.1:p.Lys750Glu | |
| XM_011529952.1:c.1162A>G | XP_011528254.1:p.Lys388Glu | |
| XM_011529953.1:c.2248A>G | XP_011528255.1:p.Lys750Glu | |
| XM_011529954.1:c.871A>G | XP_011528256.1:p.Lys291Glu | |
| XM_011529955.1:c.2248A>G | XP_011528257.1:p.Lys750Glu | |
| XM_011529956.1:c.2262A>G | XP_011528258.1:p.Thr754= | |
| XR_937816.1:n.2282A>G | ||
| XR_937817.1:n.2282A>G | ||
| XR_937818.1:n.2282A>G | ||
| XR_937819.1:n.2282A>G | ||
| XR_937820.1:n.2282A>G | ||
| XR_937821.1:n.2282A>G | ||
| XR_937822.1:n.2296A>G | ||
| XM_011529935.2:c.2212A>G | XP_011528237.1:p.Lys738Glu | |
| XM_011529936.2:c.2248A>G | XP_011528238.1:p.Lys750Glu | |
| XM_011529937.2:c.2248A>G | XP_011528239.1:p.Lys750Glu | |
| XM_011529938.2:c.2131A>G | XP_011528240.1:p.Lys711Glu | |
| XM_011529939.2:c.2248A>G | XP_011528241.1:p.Lys750Glu | |
| XM_011529940.2:c.2248A>G | XP_011528242.1:p.Lys750Glu | |
| XM_011529941.2:c.2248A>G | XP_011528243.1:p.Lys750Glu | |
| XM_011529942.3:c.2056A>G | XP_011528244.1:p.Lys686Glu | |
| XM_011529943.2:c.2248A>G | XP_011528245.1:p.Lys750Glu | |
| XM_011529944.2:c.2248A>G | XP_011528246.1:p.Lys750Glu | |
| XM_011529945.3:c.2248A>G | XP_011528247.1:p.Lys750Glu | |
| XM_011529946.2:c.1816A>G | XP_011528248.1:p.Lys606Glu | |
| XM_011529947.2:c.1726A>G | XP_011528249.1:p.Lys576Glu | |
| XM_011529948.3:c.1639A>G | XP_011528250.1:p.Lys547Glu | |
| XM_011529949.2:c.1474A>G | XP_011528251.1:p.Lys492Glu | |
| XM_011529952.2:c.1162A>G | XP_011528254.1:p.Lys388Glu | |
| XM_011529954.2:c.871A>G | XP_011528256.1:p.Lys291Glu | |
| XM_011529956.2:c.2262A>G | XP_011528258.1:p.Thr754= | |
| XM_017028633.2:c.2248A>G | XP_016884122.1:p.Lys750Glu | |
| XM_024452164.1:c.2248A>G | XP_024307932.1:p.Lys750Glu | |
| XR_001755172.2:n.2282A>G | ||
| XR_001755173.2:n.2246A>G | ||
| XR_001755174.1:n.2282A>G | ||
| XR_937816.2:n.2282A>G | ||
| XR_937817.2:n.2282A>G | ||
| XR_937818.2:n.2282A>G | ||
| XR_937821.2:n.2282A>G | ||
| XR_937822.3:n.2296A>G | ||
| NM_152513.4:c.2248A>G MANE Select | NP_689726.3:p.Lys750Glu |