Revel Score:
ENST00000487530
0.362
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0081733 (MID)
Genomes Max Group AF
0.00318643 (AMR)
Exomes Max Group AF
0.00749592 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235752126T>C , CM000663.2:g.235752126T>C | GRCh38 |
| NC_000001.10:g.235915426T>C , CM000663.1:g.235915426T>C | GRCh37 |
| NC_000001.9:g.233982049T>C | NCBI36 |
| NG_007397.1:g.136515A>G , LRG_143:g.136515A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461526.2:c.2181A>G | ENSP00000513165.1:p.Gln727= | |
| ENST00000697178.1:c.*2930A>G | ENSP00000513163.1:n.*2930A>G | |
| ENST00000697236.1:c.1215A>G | ENSP00000513203.1:p.Gln405= | |
| ENST00000697241.1:c.1986A>G | ENSP00000513206.1:p.Gln662= | |
| ENST00000389793.7:c.7506A>G MANE Select | ENSP00000374443.2:p.Gln2502= | |
| ENST00000389793.6:c.7506A>G | ENSP00000374443.2:p.Gln2502= | |
| ENST00000389794.7:c.*2930A>G | ENSP00000374444.4:n.*2930A>G | |
| ENST00000487530.2:c.46A>G | ||
| NM_000081.3:c.7506A>G , LRG_143t1:c.7506A>G | NP_000072.2:p.Gln2502= | |
| NM_001301365.1:c.7506A>G , LRG_143t2:c.7506A>G | NP_001288294.1:p.Gln2502= | |
| XM_011544031.1:c.7506A>G | XP_011542333.1:p.Gln2502= | |
| XM_011544032.1:c.7506A>G | XP_011542334.1:p.Gln2502= | |
| XM_011544033.1:c.7506A>G | XP_011542335.1:p.Gln2502= | |
| XM_011544034.1:c.7368A>G | XP_011542336.1:p.Gln2456= | |
| XM_011544035.1:c.7506A>G | XP_011542337.1:p.Gln2502= | |
| XM_011544036.1:c.5169A>G | XP_011542338.1:p.Gln1723= | |
| XM_011544037.1:c.7506A>G | XP_011542339.1:p.Gln2502= | |
| XM_011544038.1:c.7506A>G | XP_011542340.1:p.Gln2502= | |
| XM_011544039.1:c.7506A>G | XP_011542341.1:p.Gln2502= | |
| XM_011544033.2:c.7506A>G | XP_011542335.1:p.Gln2502= | |
| XM_011544035.2:c.7506A>G | XP_011542337.1:p.Gln2502= | |
| XM_011544036.2:c.5169A>G | XP_011542338.1:p.Gln1723= | |
| XM_011544037.2:c.7506A>G | XP_011542339.1:p.Gln2502= | |
| XM_011544039.2:c.7506A>G | XP_011542341.1:p.Gln2502= | |
| XM_017000150.1:c.7506A>G | XP_016855639.1:p.Gln2502= | |
| XR_001736946.2:n.7688A>G | ||
| XR_001736947.1:n.7688A>G | ||
| XR_001736948.1:n.7411+3352A>G | ||
| NM_000081.4:c.7506A>G MANE Select | NP_000072.2:p.Gln2502= |