Revel Score:
ENST00000389794
0.849
ENST00000389793 (MANE Select)
0.849
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235709107T>C , CM000663.2:g.235709107T>C | GRCh38 |
| NC_000001.10:g.235872407T>C , CM000663.1:g.235872407T>C | GRCh37 |
| NC_000001.9:g.233939030T>C | NCBI36 |
| NG_007397.1:g.179534A>G , LRG_143:g.179534A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.1537A>G | ||
| ENST00000697178.1:c.*5822A>G | ENSP00000513163.1:n.*5822A>G | |
| ENST00000697179.1:n.2836A>G | ||
| ENST00000697235.1:c.677A>G | ENSP00000513202.1:p.Asn226Ser | |
| ENST00000697236.1:c.3591A>G | ENSP00000513203.1:n.3591A>G | |
| ENST00000697237.1:c.838A>G | ||
| ENST00000697240.1:c.2261A>G | ENSP00000513205.1:p.Asn754Ser | |
| ENST00000389793.7:c.10127A>G MANE Select | ENSP00000374443.2:p.Asn3376Ser | |
| ENST00000389793.6:c.10127A>G | ENSP00000374443.2:p.Asn3376Ser | |
| ENST00000389794.7:c.*5551A>G | ENSP00000374444.4:n.*5551A>G | |
| ENST00000462376.1:n.546A>G | ||
| ENST00000473037.5:n.5117A>G | ||
| NM_000081.3:c.10127A>G , LRG_143t1:c.10127A>G | NP_000072.2:p.Asn3376Ser | |
| NM_001301365.1:c.10127A>G , LRG_143t2:c.10127A>G | NP_001288294.1:p.Asn3376Ser | |
| XM_011544031.1:c.10289A>G | XP_011542333.1:p.Asn3430Ser | |
| XM_011544032.1:c.10289A>G | XP_011542334.1:p.Asn3430Ser | |
| XM_011544033.1:c.10289A>G | XP_011542335.1:p.Asn3430Ser | |
| XM_011544034.1:c.10151A>G | XP_011542336.1:p.Asn3384Ser | |
| XM_011544036.1:c.7952A>G | XP_011542338.1:p.Asn2651Ser | |
| XM_011544033.2:c.10289A>G | XP_011542335.1:p.Asn3430Ser | |
| XM_011544036.2:c.7952A>G | XP_011542338.1:p.Asn2651Ser | |
| XM_017000150.1:c.10289A>G | XP_016855639.1:p.Asn3430Ser | |
| NM_000081.4:c.10127A>G MANE Select | NP_000072.2:p.Asn3376Ser |