Revel Score:
ENST00000322776 (MANE Select)
0.928
ENST00000532303
0.928
ENST00000532244
0.928
ENST00000529927
0.928
ENST00000532343
0.928
ENST00000415352
0.928
ENST00000533075
0.928
ENST00000529867
0.928
ENST00000530638
0.928
ENST00000528314
0.928
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001994 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001998 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67609490C>T , CM000673.2:g.67609490C>T | GRCh38 |
| NC_000011.9:g.67376961C>T , CM000673.1:g.67376961C>T | GRCh37 |
| NC_000011.8:g.67133537C>T | NCBI36 |
| NG_013353.1:g.7639C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.365C>T MANE Select | ENSP00000322450.6:p.Pro122Leu | |
| ENST00000647561.1:c.365C>T | ENSP00000497587.1:p.Pro122Leu | |
| ENST00000322776.10:c.365C>T | ENSP00000322450.6:p.Pro122Leu | |
| ENST00000415352.6:c.344C>T | ENSP00000395368.2:p.Pro115Leu | |
| ENST00000524838.5:n.422C>T | ||
| ENST00000525086.5:n.438C>T | ||
| ENST00000526169.1:n.107C>T | ||
| ENST00000526770.5:n.224C>T | ||
| ENST00000528314.1:c.62C>T | ENSP00000434581.1:p.Pro21Leu | |
| ENST00000528377.1:n.536C>T | ||
| ENST00000529867.5:c.329C>T | ENSP00000434438.1:p.Pro110Leu | |
| ENST00000529927.5:c.338C>T | ENSP00000436766.1:p.Pro113Leu | |
| ENST00000530014.5:n.660C>T | ||
| ENST00000530103.5:c.*259C>T | ENSP00000434575.1:n.*259C>T | |
| ENST00000530638.1:c.248C>T | ENSP00000436936.1:p.Pro83Leu | |
| ENST00000532244.5:c.62C>T | ENSP00000435202.1:p.Pro21Leu | |
| ENST00000532303.5:c.62C>T | ENSP00000432015.1:p.Pro21Leu | |
| ENST00000532343.5:c.62C>T | ENSP00000431751.1:p.Pro21Leu | |
| ENST00000533075.5:c.344C>T | ENSP00000437267.1:p.Pro115Leu | |
| ENST00000534139.5:n.481C>T | ||
| NM_001166102.1:c.338C>T | NP_001159574.1:p.Pro113Leu | |
| NM_007103.3:c.365C>T | NP_009034.2:p.Pro122Leu | |
| NM_001166102.2:c.338C>T | NP_001159574.1:p.Pro113Leu | |
| NM_007103.4:c.365C>T MANE Select | NP_009034.2:p.Pro122Leu |