Revel Score:
ENST00000537180
0.062
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183243203C>T , CM000663.2:g.183243203C>T | GRCh38 |
| NC_000001.10:g.183212338C>T , CM000663.1:g.183212338C>T | GRCh37 |
| NC_000001.9:g.181478961C>T | NCBI36 |
| NG_007079.2:g.61940C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264144.5:c.3385C>T MANE Select | ENSP00000264144.4:p.Arg1129Ter | |
| ENST00000264144.4:c.3385C>T | ENSP00000264144.4:p.Arg1129Ter | |
| NM_005562.2:c.3385C>T | NP_005553.2:p.Arg1129Ter | |
| NM_005562.3:c.3385C>T MANE Select | NP_005553.2:p.Arg1129Ter |