Linked Data
ClinVar Variation Id:
778954
dbSNP Id:
rs61737623
ExAC:
22:42166724 G / A
gnomAD v2:
22-42166724-G-A
gnomAD v3:
22-41770720-G-A
gnomAD v4:
22-41770720-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41770720G>A , CM000684.2:g.41770720G>A | GRCh38 |
| NC_000022.10:g.42166724G>A , CM000684.1:g.42166724G>A | GRCh37 |
| NC_000022.9:g.40496670G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401548.8:c.2303G>A MANE Select | ENSP00000384115.3:p.Gly768Asp | |
| ENST00000651135.1:n.2396G>A | ||
| ENST00000401548.7:c.2303G>A | ENSP00000384115.3:p.Gly768Asp | |
| ENST00000482055.5:n.500G>A | ||
| NM_152513.3:c.2303G>A | NP_689726.3:p.Gly768Asp | |
| XM_011529935.1:c.2267G>A | XP_011528237.1:p.Gly756Asp | |
| XM_011529936.1:c.2303G>A | XP_011528238.1:p.Gly768Asp | |
| XM_011529937.1:c.2303G>A | XP_011528239.1:p.Gly768Asp | |
| XM_011529938.1:c.2186G>A | XP_011528240.1:p.Gly729Asp | |
| XM_011529939.1:c.2303G>A | XP_011528241.1:p.Gly768Asp | |
| XM_011529940.1:c.2303G>A | XP_011528242.1:p.Gly768Asp | |
| XM_011529941.1:c.2303G>A | XP_011528243.1:p.Gly768Asp | |
| XM_011529942.1:c.2111G>A | XP_011528244.1:p.Gly704Asp | |
| XM_011529943.1:c.2269-5382G>A | XP_011528245.1:n.2269-5382G>A | |
| XM_011529944.1:c.2303G>A | XP_011528246.1:p.Gly768Asp | |
| XM_011529945.1:c.2303G>A | XP_011528247.1:p.Gly768Asp | |
| XM_011529946.1:c.1871G>A | XP_011528248.1:p.Gly624Asp | |
| XM_011529947.1:c.1781G>A | XP_011528249.1:p.Gly594Asp | |
| XM_011529948.1:c.1694G>A | XP_011528250.1:p.Gly565Asp | |
| XM_011529949.1:c.1529G>A | XP_011528251.1:p.Gly510Asp | |
| XM_011529950.1:c.2303G>A | XP_011528252.1:p.Gly768Asp | |
| XM_011529951.1:c.2303G>A | XP_011528253.1:p.Gly768Asp | |
| XM_011529952.1:c.1217G>A | XP_011528254.1:p.Gly406Asp | |
| XM_011529953.1:c.2269-5382G>A | XP_011528255.1:n.2269-5382G>A | |
| XM_011529954.1:c.926G>A | XP_011528256.1:p.Gly309Asp | |
| XR_937816.1:n.2337G>A | ||
| XR_937817.1:n.2337G>A | ||
| XR_937818.1:n.2337G>A | ||
| XR_937819.1:n.2337G>A | ||
| XR_937820.1:n.2337G>A | ||
| XR_937821.1:n.2337G>A | ||
| XR_937822.1:n.2351G>A | ||
| XM_011529935.2:c.2267G>A | XP_011528237.1:p.Gly756Asp | |
| XM_011529936.2:c.2303G>A | XP_011528238.1:p.Gly768Asp | |
| XM_011529937.2:c.2303G>A | XP_011528239.1:p.Gly768Asp | |
| XM_011529938.2:c.2186G>A | XP_011528240.1:p.Gly729Asp | |
| XM_011529939.2:c.2303G>A | XP_011528241.1:p.Gly768Asp | |
| XM_011529940.2:c.2303G>A | XP_011528242.1:p.Gly768Asp | |
| XM_011529941.2:c.2303G>A | XP_011528243.1:p.Gly768Asp | |
| XM_011529942.3:c.2111G>A | XP_011528244.1:p.Gly704Asp | |
| XM_011529943.2:c.2269-5382G>A | XP_011528245.1:n.2269-5382G>A | |
| XM_011529944.2:c.2303G>A | XP_011528246.1:p.Gly768Asp | |
| XM_011529945.3:c.2303G>A | XP_011528247.1:p.Gly768Asp | |
| XM_011529946.2:c.1871G>A | XP_011528248.1:p.Gly624Asp | |
| XM_011529947.2:c.1781G>A | XP_011528249.1:p.Gly594Asp | |
| XM_011529948.3:c.1694G>A | XP_011528250.1:p.Gly565Asp | |
| XM_011529949.2:c.1529G>A | XP_011528251.1:p.Gly510Asp | |
| XM_011529952.2:c.1217G>A | XP_011528254.1:p.Gly406Asp | |
| XM_011529954.2:c.926G>A | XP_011528256.1:p.Gly309Asp | |
| XM_017028633.2:c.2303G>A | XP_016884122.1:p.Gly768Asp | |
| XM_024452164.1:c.2303G>A | XP_024307932.1:p.Gly768Asp | |
| XR_001755172.2:n.2337G>A | ||
| XR_001755173.2:n.2301G>A | ||
| XR_001755174.1:n.2303-5382G>A | ||
| XR_937816.2:n.2337G>A | ||
| XR_937817.2:n.2337G>A | ||
| XR_937818.2:n.2337G>A | ||
| XR_937821.2:n.2337G>A | ||
| XR_937822.3:n.2351G>A | ||
| NM_152513.4:c.2303G>A MANE Select | NP_689726.3:p.Gly768Asp |