Revel Score:
ENST00000495186 (MANE Select)
0.485
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00106609 (NFE)
Genomes Max Group AF
0.00083195 (NFE)
Exomes Max Group AF
0.00106822 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48528275C>T , CM000685.2:g.48528275C>T | GRCh38 |
| NC_000023.10:g.48386663C>T , CM000685.1:g.48386663C>T | GRCh37 |
| NC_000023.9:g.48271607C>T | NCBI36 |
| NG_007452.1:g.11500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.511C>T MANE Select | ENSP00000417052.1:p.Arg171Cys | |
| ENST00000651615.1:c.469+990C>T | ENSP00000498524.1:n.469+990C>T | |
| ENST00000276096.10:n.469C>T | ||
| ENST00000495186.5:c.511C>T | ENSP00000417052.1:p.Arg171Cys | |
| ENST00000498425.1:n.632C>T | ||
| NM_006579.2:c.511C>T | NP_006570.1:p.Arg171Cys | |
| NM_006579.3:c.511C>T MANE Select | NP_006570.1:p.Arg171Cys |