Revel Score:
ENST00000377567
0.319
ENST00000377574 (MANE Select)
0.319
ENST00000377572
0.319
ENST00000336464
0.319
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00232607 (EAS)
Genomes Max Group AF
0.00050443 (EAS)
Exomes Max Group AF
0.00249027 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64591825G>A , CM000673.2:g.64591825G>A | GRCh38 |
| NC_000011.9:g.64359297G>A , CM000673.1:g.64359297G>A | GRCh37 |
| NC_000011.8:g.64115873G>A | NCBI36 |
| NG_008110.1:g.6016G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377574.6:c.269G>A MANE Select | ENSP00000366797.1:p.Arg90His | |
| ENST00000336464.7:c.269G>A | ENSP00000336836.7:p.Arg90His | |
| ENST00000377567.6:c.269G>A | ENSP00000366790.2:p.Arg90His | |
| ENST00000377572.5:c.269G>A | ENSP00000366795.1:p.Arg90His | |
| ENST00000377574.5:c.269G>A | ENSP00000366797.1:p.Arg90His | |
| ENST00000473690.5:c.-240G>A | ENSP00000438437.1:n.-240G>A | |
| NM_001276326.1:c.269G>A | NP_001263255.1:p.Arg90His | |
| NM_001276327.1:c.269G>A | NP_001263256.1:p.Arg90His | |
| NM_144585.3:c.269G>A | NP_653186.2:p.Arg90His | |
| NM_153378.2:c.-240G>A | NP_700357.1:n.-240G>A | |
| XM_006718430.2:c.269G>A | XP_006718493.1:p.Arg90His | |
| XM_006718431.2:c.164G>A | XP_006718494.1:p.Arg55His | |
| XM_006718430.4:c.269G>A | XP_006718493.1:p.Arg90His | |
| XM_006718431.4:c.164G>A | XP_006718494.1:p.Arg55His | |
| NM_144585.4:c.269G>A MANE Select | NP_653186.2:p.Arg90His | |
| NM_001276326.2:c.269G>A | NP_001263255.1:p.Arg90His | |
| NM_153378.3:c.-240G>A | NP_700357.1:n.-240G>A | |
| NM_001276327.2:c.269G>A | NP_001263256.1:p.Arg90His |