Revel Score:
ENST00000267622 (MANE Select)
0.239
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00203477 (NFE)
Genomes Max Group AF
0.00144017 (NFE)
Exomes Max Group AF
0.0020576 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92011020A>G , CM000676.2:g.92011020A>G | GRCh38 |
| NC_000014.8:g.92477364A>G , CM000676.1:g.92477364A>G | GRCh37 |
| NC_000014.7:g.91547117A>G | NCBI36 |
| NG_016970.1:g.34040T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.1280T>C MANE Select | ENSP00000267622.4:p.Leu427Ser | |
| ENST00000554357.5:c.460+735T>C | ||
| NM_004239.3:c.1280T>C | NP_004230.2:p.Leu427Ser | |
| XM_005268214.2:c.-12-3168T>C | XP_005268271.1:n.-12-3168T>C | |
| XM_005268215.2:c.1280T>C | XP_005268272.1:p.Leu427Ser | |
| XM_006720321.2:c.1277T>C | XP_006720384.1:p.Leu426Ser | |
| XM_011537361.1:c.1280T>C | XP_011535663.1:p.Leu427Ser | |
| XR_943560.1:n.1735T>C | ||
| NM_001321851.1:c.1277T>C | NP_001308780.1:p.Leu426Ser | |
| NM_004239.4:c.1280T>C MANE Select | NP_004230.2:p.Leu427Ser | |
| XM_017021787.2:c.575T>C | XP_016877276.1:p.Leu192Ser | |
| XM_017021788.2:c.-12-3168T>C | XP_016877277.1:n.-12-3168T>C | |
| XR_001750598.2:n.1729T>C | ||
| XR_943560.2:n.1729T>C |