ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000511 (NFE)
Genomes Max Group AF
0.00007908 (NFE)
Exomes Max Group AF
0.00004612 (NFE)
Revel Score:
ENST00000393504
0.947
ENST00000436404
0.947
ENST00000272602 (MANE Select)
0.947
ENST00000409937
0.947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98395999C>T , CM000664.2:g.98395999C>T | GRCh38 |
| NC_000002.11:g.99012462C>T , CM000664.1:g.99012462C>T | GRCh37 |
| NC_000002.10:g.98378894C>T | NCBI36 |
| NG_009097.1:g.54845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272602.7:c.829C>T MANE Select | ENSP00000272602.2:p.Arg277Cys | |
| ENST00000272602.6:c.829C>T | ENSP00000272602.2:p.Arg277Cys | |
| ENST00000393504.5:c.829C>T | ENSP00000377140.1:p.Arg277Cys | |
| ENST00000409937.1:c.841C>T | ENSP00000386761.1:p.Arg281Cys | |
| ENST00000436404.6:c.775C>T | ENSP00000410070.2:p.Arg259Cys | |
| NM_001079878.1:c.775C>T | NP_001073347.1:p.Arg259Cys | |
| NM_001298.2:c.829C>T | NP_001289.1:p.Arg277Cys | |
| XM_006712243.2:c.940C>T | XP_006712306.1:p.Arg314Cys | |
| XM_011510554.1:c.994C>T | XP_011508856.1:p.Arg332Cys | |
| XM_011510554.2:c.994C>T | XP_011508856.1:p.Arg332Cys | |
| NM_001079878.2:c.775C>T | NP_001073347.1:p.Arg259Cys | |
| NM_001298.3:c.829C>T MANE Select | NP_001289.1:p.Arg277Cys |