Revel Score:
ENST00000371486 (MANE Select)
0.835
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001539 (EAS)
Genomes Max Group AF
0.00006813 (EAS)
Exomes Max Group AF
0.00013578 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53213509C>T , CM000663.2:g.53213509C>T | GRCh38 |
| NC_000001.10:g.53679181C>T , CM000663.1:g.53679181C>T | GRCh37 |
| NC_000001.9:g.53451769C>T | NCBI36 |
| NG_008035.1:g.22081C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.1891C>T MANE Select | ENSP00000360541.3:p.Arg631Cys | |
| ENST00000635862.1:c.1858C>T | ENSP00000490867.1:p.Arg620Cys | |
| ENST00000635888.1:c.*1877C>T | ENSP00000490042.1:n.*1877C>T | |
| ENST00000636239.1:c.*1538C>T | ENSP00000490066.1:n.*1538C>T | |
| ENST00000636867.1:c.1822C>T | ENSP00000489631.1:p.Arg608Cys | |
| ENST00000636891.1:c.*144C>T | ENSP00000490399.1:n.*144C>T | |
| ENST00000636935.1:c.586C>T | ENSP00000489757.1:p.Arg196Cys | |
| ENST00000637252.1:c.1927C>T | ENSP00000490492.1:p.Arg643Cys | |
| ENST00000638135.1:c.*1538C>T | ENSP00000489756.1:n.*1538C>T | |
| ENST00000371486.3:c.1891C>T | ENSP00000360541.3:p.Arg631Cys | |
| NM_000098.2:c.1891C>T | NP_000089.1:p.Arg631Cys | |
| XM_005270484.1:c.1822C>T | XP_005270541.1:p.Arg608Cys | |
| NM_001330589.1:c.1822C>T | NP_001317518.1:p.Arg608Cys | |
| NM_000098.3:c.1891C>T MANE Select | NP_000089.1:p.Arg631Cys | |
| NM_001330589.2:c.1822C>T | NP_001317518.1:p.Arg608Cys |