Revel Score:
ENST00000440460 (MANE Select)
0.083
ENST00000315253
0.083
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00069013 (NFE)
Genomes Max Group AF
0.00057244 (NFE)
Exomes Max Group AF
0.00068914 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111989050A>T , CM000673.2:g.111989050A>T | GRCh38 |
| NC_000011.9:g.111859774A>T , CM000673.1:g.111859774A>T | GRCh37 |
| NC_000011.8:g.111364984A>T | NCBI36 |
| NG_033127.1:g.66908A>T | |
| NG_033127.2:g.66907A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440460.7:c.1108A>T MANE Select | ENSP00000394352.3:p.Ile370Leu | |
| ENST00000440460.6:c.1108A>T | ENSP00000394352.3:p.Ile370Leu | |
| ENST00000526500.5:n.104A>T | ||
| ENST00000614104.4:c.226A>T | ENSP00000479434.1:p.Ile76Leu | |
| ENST00000615255.1:c.475A>T | ENSP00000480808.1:p.Ile159Leu | |
| ENST00000618522.4:n.461A>T | ||
| NM_001037954.3:c.1108A>T | NP_001033043.1:p.Ile370Leu | |
| NM_033425.4:c.475A>T | NP_219493.1:p.Ile159Leu | |
| XM_005277726.3:c.1108A>T | XP_005277783.1:p.Ile370Leu | |
| XM_005277727.3:c.1105A>T | XP_005277784.1:p.Ile369Leu | |
| XM_005277728.3:c.475A>T | XP_005277785.1:p.Ile159Leu | |
| XM_011543045.1:c.226A>T | XP_011541347.1:p.Ile76Leu | |
| XM_011543046.1:c.220A>T | XP_011541348.1:p.Ile74Leu | |
| XM_017018466.2:c.1105A>T | XP_016873955.1:p.Ile369Leu | |
| XM_017018467.1:c.1105A>T | XP_016873956.1:p.Ile369Leu | |
| XM_017018468.1:c.226A>T | XP_016873957.1:p.Ile76Leu | |
| XM_017018469.1:c.220A>T | XP_016873958.1:p.Ile74Leu | |
| XM_024448742.1:c.1000A>T | XP_024304510.1:p.Ile334Leu | |
| XM_024448743.1:c.997A>T | XP_024304511.1:p.Ile333Leu | |
| NM_001037954.4:c.1108A>T MANE Select | NP_001033043.1:p.Ile370Leu | |
| NM_033425.5:c.475A>T | NP_219493.1:p.Ile159Leu |