Revel Score:
ENST00000355773 (MANE Select)
0.749
ENST00000393019
0.749
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007912 (NFE)
Genomes Max Group AF
0.00005289 (AMR)
Exomes Max Group AF
0.00007948 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73641810T>C , CM000668.2:g.73641810T>C | GRCh38 |
| NC_000006.11:g.74351533T>C , CM000668.1:g.74351533T>C | GRCh37 |
| NC_000006.10:g.74408254T>C | NCBI36 |
| NG_008272.1:g.17205A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.406A>G MANE Select | ENSP00000348019.5:p.Lys136Glu | |
| ENST00000355773.5:c.406A>G | ENSP00000348019.5:p.Lys136Glu | |
| ENST00000481996.1:n.172A>G | ||
| NM_012434.4:c.406A>G | NP_036566.1:p.Lys136Glu | |
| XM_005248710.2:c.355A>G | XP_005248767.1:p.Lys119Glu | |
| XM_005248711.1:c.208A>G | XP_005248768.1:p.Lys70Glu | |
| XM_011535750.1:c.406A>G | XP_011534052.1:p.Lys136Glu | |
| XM_011535751.1:c.406A>G | XP_011534053.1:p.Lys136Glu | |
| NM_012434.5:c.406A>G MANE Select | NP_036566.1:p.Lys136Glu | |
| NM_001382629.1:c.175A>G | NP_001369558.1:p.Lys59Glu | |
| NM_001382630.1:c.406A>G | NP_001369559.1:p.Lys136Glu | |
| NM_001382631.1:c.427A>G | NP_001369560.1:p.Lys143Glu | |
| NM_001382632.1:c.406A>G | NP_001369561.1:p.Lys136Glu | |
| NM_001382633.1:c.406A>G | NP_001369562.1:p.Lys136Glu | |
| NM_001382634.1:c.406A>G | NP_001369563.1:p.Lys136Glu | |
| NM_001382635.1:c.406A>G | NP_001369564.1:p.Lys136Glu | |
| NM_001382636.1:c.175A>G | NP_001369565.1:p.Lys59Glu |