Revel Score:
ENST00000526144
0.231
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00114218 (MID)
Genomes Max Group AF
0.00008872 (AMR)
Exomes Max Group AF
0.00106898 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38252245C>T , CM000670.2:g.38252245C>T | GRCh38 |
| NC_000008.10:g.38109763C>T , CM000670.1:g.38109763C>T | GRCh37 |
| NC_000008.9:g.38228920C>T | NCBI36 |
| NG_033875.1:g.25755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397166.7:c.1575C>T MANE Select | ENSP00000380352.2:p.Tyr525= | |
| ENST00000397166.6:c.1575C>T | ENSP00000380352.2:p.Tyr525= | |
| ENST00000517385.5:c.432C>T | ENSP00000429017.1:p.Tyr144= | |
| ENST00000520176.5:n.2364C>T | ||
| ENST00000520272.6:c.1575C>T | ENSP00000429932.2:p.Tyr525= | |
| ENST00000524545.1:n.35C>T | ||
| ENST00000526144.1:c.80C>T | ||
| ENST00000528148.1:n.148C>T | ||
| ENST00000528504.5:n.567C>T | ||
| ENST00000529845.5:c.-53C>T | ENSP00000431638.1:n.-53C>T | |
| NM_001164232.1:c.1575C>T | NP_001157704.1:p.Tyr525= | |
| NM_015214.2:c.1575C>T | NP_056029.2:p.Tyr525= | |
| XM_005273454.1:c.1575C>T | XP_005273511.1:p.Tyr525= | |
| XM_005273455.2:c.1575C>T | XP_005273512.1:p.Tyr525= | |
| XM_005273456.2:c.1485C>T | XP_005273513.1:p.Tyr495= | |
| XM_005273457.2:c.432C>T | XP_005273514.1:p.Tyr144= | |
| XM_011544455.1:c.1575C>T | XP_011542757.1:p.Tyr525= | |
| XM_011544456.1:c.1575C>T | XP_011542758.1:p.Tyr525= | |
| XR_247123.1:n.2032C>T | ||
| XR_949383.1:n.2100C>T | ||
| XR_949384.1:n.2100C>T | ||
| XR_949385.1:n.2100C>T | ||
| XR_949386.1:n.2100C>T | ||
| XR_949387.1:n.2100C>T | ||
| NM_001362911.1:c.1575C>T | NP_001349840.1:p.Tyr525= | |
| NM_001362912.1:c.1575C>T | NP_001349841.1:p.Tyr525= | |
| NM_001362913.1:c.1485C>T | NP_001349842.1:p.Tyr495= | |
| NM_001362914.1:c.1575C>T | NP_001349843.1:p.Tyr525= | |
| NR_156416.1:n.1884C>T | ||
| NR_156417.1:n.1884C>T | ||
| XM_011544456.2:c.1575C>T | XP_011542758.1:p.Tyr525= | |
| XM_017013255.2:c.432C>T | XP_016868744.1:p.Tyr144= | |
| XR_001745504.2:n.1858C>T | ||
| XR_001745506.2:n.1790C>T | ||
| NM_001362911.2:c.1575C>T | NP_001349840.1:p.Tyr525= | |
| NM_001362912.2:c.1575C>T | NP_001349841.1:p.Tyr525= | |
| NM_015214.3:c.1575C>T MANE Select | NP_056029.2:p.Tyr525= | |
| NR_156417.2:n.1790C>T | ||
| NM_001164232.2:c.1575C>T | NP_001157704.1:p.Tyr525= | |
| NM_001362913.2:c.1485C>T | NP_001349842.1:p.Tyr495= | |
| NM_001362914.2:c.1575C>T | NP_001349843.1:p.Tyr525= | |
| NR_156416.2:n.1790C>T |