Revel Score:
ENST00000407106
0.942
ENST00000261755
0.942
ENST00000539156
0.942
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002153 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002374 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80173089C>T , CM000677.2:g.80173089C>T | GRCh38 |
| NC_000015.9:g.80465431C>T , CM000677.1:g.80465431C>T | GRCh37 |
| NC_000015.8:g.78252486C>T | NCBI36 |
| NG_012833.1:g.25091C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.871C>T | ||
| ENST00000561421.6:c.782C>T MANE Select | ENSP00000453347.2:p.Pro261Leu | |
| ENST00000646551.1:n.2396C>T | ||
| ENST00000261755.9:c.782C>T | ENSP00000261755.5:p.Pro261Leu | |
| ENST00000407106.5:c.782C>T | ENSP00000385080.1:p.Pro261Leu | |
| ENST00000539156.5:c.572C>T | ENSP00000454271.1:p.Pro191Leu | |
| ENST00000558627.1:n.710C>T | ||
| ENST00000559542.1:n.118C>T | ||
| ENST00000561421.5:c.782C>T | ENSP00000453347.1:p.Pro261Leu | |
| NM_000137.2:c.782C>T | NP_000128.1:p.Pro261Leu | |
| XM_024449872.1:c.782C>T | XP_024305640.1:p.Pro261Leu | |
| NM_000137.4:c.782C>T MANE Select | NP_000128.1:p.Pro261Leu | |
| NM_001374377.1:c.782C>T | NP_001361306.1:p.Pro261Leu | |
| NM_001374380.1:c.782C>T | NP_001361309.1:p.Pro261Leu |