Revel Score:
ENST00000356231 (MANE Select)
0.585
ENST00000267892
0.585
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00035347 (NFE)
Genomes Max Group AF
0.00005847 (NFE)
Exomes Max Group AF
0.00036914 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42736715G>C , CM000677.2:g.42736715G>C | GRCh38 |
| NC_000015.9:g.43028913G>C , CM000677.1:g.43028913G>C | GRCh37 |
| NC_000015.8:g.40816205G>C | NCBI36 |
| NG_012491.1:g.5505C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356231.4:c.156C>G MANE Select | ENSP00000348564.3:p.Phe52Leu | |
| ENST00000643434.1:c.90+298C>G | ENSP00000494699.1:n.90+298C>G | |
| ENST00000356231.3:c.156C>G | ENSP00000348564.3:p.Phe52Leu | |
| ENST00000563260.1:c.132C>G | ENSP00000455536.1:p.Phe44Leu | |
| NM_138477.2:c.156C>G | NP_612486.2:p.Phe52Leu | |
| XM_005254176.3:c.156C>G | XP_005254233.1:p.Phe52Leu | |
| XM_011521270.1:c.180C>G | XP_011519572.1:p.Phe60Leu | |
| XM_011521271.1:c.180C>G | XP_011519573.1:p.Phe60Leu | |
| XM_011521272.1:c.180C>G | XP_011519574.1:p.Phe60Leu | |
| XM_011521273.1:c.180C>G | XP_011519575.1:p.Phe60Leu | |
| XM_011521275.1:c.-191+298C>G | XP_011519577.1:n.-191+298C>G | |
| XR_931757.1:n.191C>G | ||
| NM_138477.4:c.156C>G MANE Select | NP_612486.2:p.Phe52Leu | |
| XM_005254176.5:c.156C>G | XP_005254233.1:p.Phe52Leu | |
| XM_011521270.2:c.180C>G | XP_011519572.1:p.Phe60Leu | |
| XM_011521271.2:c.180C>G | XP_011519573.1:p.Phe60Leu | |
| XR_001751104.1:n.210C>G | ||
| XR_001751105.1:n.210C>G | ||
| XR_931757.2:n.211C>G |