Revel Score:
ENST00000393504
0.946
ENST00000436404
0.946
ENST00000272602 (MANE Select)
0.946
ENST00000409937
0.946
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000738 (EAS)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98389696C>T , CM000664.2:g.98389696C>T | GRCh38 |
| NC_000002.11:g.99006159C>T , CM000664.1:g.99006159C>T | GRCh37 |
| NC_000002.10:g.98372591C>T | NCBI36 |
| NG_009097.1:g.48542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272602.7:c.488C>T MANE Select | ENSP00000272602.2:p.Pro163Leu | |
| ENST00000272602.6:c.488C>T | ENSP00000272602.2:p.Pro163Leu | |
| ENST00000393503.2:n.493C>T | ||
| ENST00000393504.5:c.488C>T | ENSP00000377140.1:p.Pro163Leu | |
| ENST00000409937.1:c.500C>T | ENSP00000386761.1:p.Pro167Leu | |
| ENST00000436404.6:c.434C>T | ENSP00000410070.2:p.Pro145Leu | |
| NM_001079878.1:c.434C>T | NP_001073347.1:p.Pro145Leu | |
| NM_001298.2:c.488C>T | NP_001289.1:p.Pro163Leu | |
| XM_006712243.2:c.599C>T | XP_006712306.1:p.Pro200Leu | |
| XM_011510554.1:c.653C>T | XP_011508856.1:p.Pro218Leu | |
| XM_011510554.2:c.653C>T | XP_011508856.1:p.Pro218Leu | |
| NM_001079878.2:c.434C>T | NP_001073347.1:p.Pro145Leu | |
| NM_001298.3:c.488C>T MANE Select | NP_001289.1:p.Pro163Leu |