Revel Score:
ENST00000458471
0.526
ENST00000262887 (MANE Select)
0.526
ENST00000543982
0.526
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0003072 (NFE)
Genomes Max Group AF
0.00023049 (NFE)
Exomes Max Group AF
0.00030635 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43544178G>A , CM000681.2:g.43544178G>A | GRCh38 |
| NC_000019.9:g.44048330G>A , CM000681.1:g.44048330G>A | GRCh37 |
| NC_000019.8:g.48740170G>A | NCBI36 |
| NG_033799.1:g.36401C>T , LRG_784:g.36401C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1678C>T MANE Select | ENSP00000262887.5:p.Arg560Trp | |
| ENST00000262887.9:c.1678C>T | ENSP00000262887.4:p.Arg560Trp | |
| ENST00000543982.5:c.1585C>T | ENSP00000443671.1:p.Arg529Trp | |
| NM_006297.2:c.1678C>T , LRG_784t1:c.1678C>T | NP_006288.2:p.Arg560Trp | |
| NM_006297.3:c.1678C>T MANE Select | NP_006288.2:p.Arg560Trp |