Revel Score:
ENST00000368148
0.515
ENST00000368147
0.515
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0086422 (EAS)
Genomes Max Group AF
0.01063082 (EAS)
Exomes Max Group AF
0.00812754 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158635935G>A , CM000663.2:g.158635935G>A | GRCh38 |
| NC_000001.10:g.158605725G>A , CM000663.1:g.158605725G>A | GRCh37 |
| NC_000001.9:g.156872349G>A | NCBI36 |
| NG_011474.1:g.55782C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.5410C>T MANE Select | ENSP00000495214.1:p.Leu1804Phe | |
| ENST00000368147.8:c.5410C>T | ENSP00000357129.4:p.Leu1804Phe | |
| ENST00000614909.4:c.5410C>T | ENSP00000482595.1:p.Leu1804Phe | |
| NM_003126.2:c.5410C>T | NP_003117.2:p.Leu1804Phe | |
| XM_011509916.1:c.5410C>T | XP_011508218.1:p.Leu1804Phe | |
| XM_011509917.1:c.5410C>T | XP_011508219.1:p.Leu1804Phe | |
| XM_011509918.1:c.5410C>T | XP_011508220.1:p.Leu1804Phe | |
| XR_921911.1:n.5523C>T | ||
| NM_003126.3:c.5410C>T | NP_003117.2:p.Leu1804Phe | |
| XM_011509916.2:c.5410C>T | XP_011508218.1:p.Leu1804Phe | |
| XM_011509917.3:c.5410C>T | XP_011508219.1:p.Leu1804Phe | |
| XM_011509918.3:c.5410C>T | XP_011508220.1:p.Leu1804Phe | |
| XR_921911.3:n.5536C>T | ||
| NM_003126.4:c.5410C>T MANE Select | NP_003117.2:p.Leu1804Phe |