Revel Score:
ENST00000487530
0.045
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028237 (NFE)
Genomes Max Group AF
0.00015871 (NFE)
Exomes Max Group AF
0.00028432 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235746502T>C , CM000663.2:g.235746502T>C | GRCh38 |
| NC_000001.10:g.235909802T>C , CM000663.1:g.235909802T>C | GRCh37 |
| NC_000001.9:g.233976425T>C | NCBI36 |
| NG_007397.1:g.142139A>G , LRG_143:g.142139A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461526.2:c.2481A>G | ENSP00000513165.1:p.Gln827= | |
| ENST00000697178.1:c.*3230A>G | ENSP00000513163.1:n.*3230A>G | |
| ENST00000697236.1:c.1515A>G | ENSP00000513203.1:p.Gln505= | |
| ENST00000697241.1:c.2286A>G | ENSP00000513206.1:p.Gln762= | |
| ENST00000389793.7:c.7806A>G MANE Select | ENSP00000374443.2:p.Gln2602= | |
| ENST00000389793.6:c.7806A>G | ENSP00000374443.2:p.Gln2602= | |
| ENST00000389794.7:c.*3230A>G | ENSP00000374444.4:n.*3230A>G | |
| ENST00000487530.2:c.508A>G | ||
| NM_000081.3:c.7806A>G , LRG_143t1:c.7806A>G | NP_000072.2:p.Gln2602= | |
| NM_001301365.1:c.7806A>G , LRG_143t2:c.7806A>G | NP_001288294.1:p.Gln2602= | |
| XM_011544031.1:c.7968A>G | XP_011542333.1:p.Gln2656= | |
| XM_011544032.1:c.7968A>G | XP_011542334.1:p.Gln2656= | |
| XM_011544033.1:c.7968A>G | XP_011542335.1:p.Gln2656= | |
| XM_011544034.1:c.7830A>G | XP_011542336.1:p.Gln2610= | |
| XM_011544035.1:c.7968A>G | XP_011542337.1:p.Gln2656= | |
| XM_011544036.1:c.5631A>G | XP_011542338.1:p.Gln1877= | |
| XM_011544037.1:c.7968A>G | XP_011542339.1:p.Gln2656= | |
| XM_011544038.1:c.7968A>G | XP_011542340.1:p.Gln2656= | |
| XM_011544033.2:c.7968A>G | XP_011542335.1:p.Gln2656= | |
| XM_011544035.2:c.7968A>G | XP_011542337.1:p.Gln2656= | |
| XM_011544036.2:c.5631A>G | XP_011542338.1:p.Gln1877= | |
| XM_011544037.2:c.7968A>G | XP_011542339.1:p.Gln2656= | |
| XM_017000150.1:c.7968A>G | XP_016855639.1:p.Gln2656= | |
| XR_001736946.2:n.8150A>G | ||
| XR_001736947.1:n.7988A>G | ||
| XR_001736948.1:n.7437A>G | ||
| NM_000081.4:c.7806A>G MANE Select | NP_000072.2:p.Gln2602= |