ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001107 (NFE)
Exomes Max Group AF
0.00001093 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.187729500T>C , CM000665.2:g.187729500T>C | GRCh38 |
| NC_000003.11:g.187447288T>C , CM000665.1:g.187447288T>C | GRCh37 |
| NC_000003.10:g.188929982T>C | NCBI36 |
| NG_007149.1:g.21036A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406870.7:c.905A>G MANE Select | ENSP00000384371.2:p.Glu302Gly | |
| ENST00000232014.8:c.905A>G | ENSP00000232014.4:p.Glu302Gly | |
| ENST00000406870.6:c.905A>G | ENSP00000384371.2:p.Glu302Gly | |
| ENST00000419510.6:c.*675A>G | ENSP00000398014.2:n.*675A>G | |
| ENST00000450123.6:c.905A>G | ENSP00000413122.2:p.Glu302Gly | |
| ENST00000621333.4:c.905A>G | ENSP00000479784.1:p.Glu302Gly | |
| NM_001130845.1:c.905A>G | NP_001124317.1:p.Glu302Gly | |
| NM_001134738.1:c.905A>G | NP_001128210.1:p.Glu302Gly | |
| NM_001706.4:c.905A>G | NP_001697.2:p.Glu302Gly | |
| NR_034062.1:n.294-2871T>C | ||
| XM_005247694.2:c.905A>G | XP_005247751.1:p.Glu302Gly | |
| XM_011513062.1:c.905A>G | XP_011511364.1:p.Glu302Gly | |
| XM_005247694.4:c.905A>G | XP_005247751.1:p.Glu302Gly | |
| XM_011513062.3:c.905A>G | XP_011511364.1:p.Glu302Gly | |
| NM_001706.5:c.905A>G MANE Select | NP_001697.2:p.Glu302Gly | |
| NM_001130845.2:c.905A>G | NP_001124317.1:p.Glu302Gly |