Revel Score:
ENST00000261622 (MANE Select)
0.807
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87837861G>A , CM000678.2:g.87837861G>A | GRCh38 |
| NC_000016.9:g.87871467G>A , CM000678.1:g.87871467G>A | GRCh37 |
| NC_000016.8:g.86428968G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261622.5:c.1124C>T MANE Select | ENSP00000261622.4:p.Pro375Leu | |
| ENST00000261622.4:c.1124C>T | ENSP00000261622.4:p.Pro375Leu | |
| ENST00000565644.5:c.326C>T | ENSP00000454323.1:p.Pro109Leu | |
| NM_003486.5:c.1124C>T | NP_003477.4:p.Pro375Leu | |
| XM_006721286.2:c.605C>T | XP_006721349.1:p.Pro202Leu | |
| XM_011523354.1:c.998C>T | XP_011521656.1:p.Pro333Leu | |
| XM_011523355.1:c.593C>T | XP_011521657.1:p.Pro198Leu | |
| NM_003486.6:c.1124C>T | NP_003477.4:p.Pro375Leu | |
| XM_006721286.3:c.659C>T | XP_006721349.2:p.Pro220Leu | |
| XM_017023735.1:c.1124C>T | XP_016879224.1:p.Pro375Leu | |
| XM_017023736.1:c.998C>T | XP_016879225.1:p.Pro333Leu | |
| XM_017023737.2:c.593C>T | XP_016879226.1:p.Pro198Leu | |
| NM_003486.7:c.1124C>T MANE Select | NP_003477.4:p.Pro375Leu |