Revel Score:
ENST00000438926
0.783
ENST00000262502
0.783
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00606121 (EAS)
Genomes Max Group AF
0.00104563 (EAS)
Exomes Max Group AF
0.0066135 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56894555T>A , CM000678.2:g.56894555T>A | GRCh38 |
| NC_000016.9:g.56928467T>A , CM000678.1:g.56928467T>A | GRCh37 |
| NC_000016.8:g.55485968T>A | NCBI36 |
| NG_009386.1:g.34349T>A | |
| NG_009386.2:g.34349T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.2546T>A MANE Select | ENSP00000456149.2:p.Leu849His | |
| ENST00000262502.5:c.2543T>A | ENSP00000262502.5:p.Leu848His | |
| ENST00000438926.6:c.2573T>A | ENSP00000402152.2:p.Leu858His | |
| ENST00000563236.5:c.2546T>A | ENSP00000456149.1:p.Leu849His | |
| ENST00000566786.5:c.2570T>A | ENSP00000457552.1:p.Leu857His | |
| NM_000339.2:c.2573T>A | NP_000330.2:p.Leu858His | |
| NM_001126107.1:c.2570T>A | NP_001119579.1:p.Leu857His | |
| NM_001126108.1:c.2546T>A | NP_001119580.1:p.Leu849His | |
| XM_005256119.1:c.2543T>A | XP_005256176.1:p.Leu848His | |
| XM_005256119.2:c.2543T>A | XP_005256176.1:p.Leu848His | |
| NM_000339.3:c.2573T>A | NP_000330.3:p.Leu858His | |
| NM_001126107.2:c.2570T>A | NP_001119579.2:p.Leu857His | |
| NM_001126108.2:c.2546T>A MANE Select | NP_001119580.2:p.Leu849His |