ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00112804 (AMR)
Genomes Max Group AF
0.00295843 (AMR)
Exomes Max Group AF
0.00089302 (NFE)
Revel Score:
ENST00000520113 (MANE Select)
0.164
ENST00000369538
0.164
ENST00000353928
0.164
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684278C>A , CM000663.2:g.114684278C>A | GRCh38 |
| NC_000001.10:g.115226899C>A , CM000663.1:g.115226899C>A | GRCh37 |
| NC_000001.9:g.115028422C>A | NCBI36 |
| NG_008012.1:g.16278G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.456G>T | ENSP00000358551.4:p.Gln152His | |
| ENST00000520113.7:c.468G>T MANE Select | ENSP00000430075.3:p.Gln156His | |
| ENST00000637080.1:c.471G>T | ENSP00000489753.1:p.Gln157His | |
| ENST00000639077.1:n.133G>T | ||
| ENST00000369538.3:c.555G>T | ENSP00000358551.3:p.Gln185His | |
| ENST00000485564.3:n.342G>T | ||
| ENST00000520113.6:c.567G>T | ENSP00000430075.2:p.Gln189His | |
| NM_000036.2:c.567G>T | NP_000027.2:p.Gln189His | |
| NM_001172626.1:c.555G>T | NP_001166097.1:p.Gln185His | |
| NM_000036.3:c.468G>T MANE Select | NP_000027.3:p.Gln156His | |
| NM_001172626.2:c.456G>T | NP_001166097.2:p.Gln152His |