Revel Score:
ENST00000268616
0.179
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013407 (MID)
Genomes Max Group AF
0.00001913 (AFR)
Exomes Max Group AF
0.00022952 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87413098C>A , CM000678.2:g.87413098C>A | GRCh38 |
| NC_000016.9:g.87446704C>A , CM000678.1:g.87446704C>A | GRCh37 |
| NC_000016.8:g.86004205C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268616.9:c.1290G>T | ENSP00000268616.4:p.Gln430His | |
| ENST00000568020.6:c.1322G>T | ||
| ENST00000671377.2:c.1701G>T MANE Select | ENSP00000499622.1:p.Gln567His | |
| ENST00000268616.8:c.1290G>T | ENSP00000268616.4:p.Gln430His | |
| ENST00000561928.1:c.940G>T | ||
| ENST00000568020.5:c.1290G>T | ENSP00000455431.1:p.Gln430His | |
| NM_015144.2:c.1290G>T | NP_055959.1:p.Gln430His | |
| XM_005255858.3:c.1290G>T | XP_005255915.2:p.Gln430His | |
| XM_011522964.1:c.1573G>T | XP_011521266.1:p.Gly525Cys | |
| XR_243401.3:n.1508G>T | ||
| XM_011522964.2:c.1573G>T | XP_011521266.1:p.Gly525Cys | |
| XM_017023082.2:c.1182G>T | XP_016878571.1:p.Gln394His | |
| NM_015144.3:c.1701G>T MANE Select | NP_055959.2:p.Gln567His |