Revel Score:
ENST00000524487
0.212
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00065765 (NFE)
Genomes Max Group AF
0.00036748 (NFE)
Exomes Max Group AF
0.00066844 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47438857C>T , CM000673.2:g.47438857C>T | GRCh38 |
| NC_000011.9:g.47460408C>T , CM000673.1:g.47460408C>T | GRCh37 |
| NC_000011.8:g.47416984C>T | NCBI36 |
| NG_008312.1:g.15323G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.1041G>A MANE Select | ENSP00000298854.2:p.Ala347= | |
| ENST00000298854.6:c.1041G>A | ENSP00000298854.2:p.Ala347= | |
| ENST00000352508.7:c.864G>A | ENSP00000298853.3:p.Ala288= | |
| ENST00000524487.5:c.882G>A | ENSP00000435551.2:p.Ala294= | |
| ENST00000528356.1:n.122-810G>A | ||
| ENST00000529341.1:c.864G>A | ENSP00000431732.1:p.Ala288= | |
| NM_005055.4:c.1041G>A | NP_005046.2:p.Ala347= | |
| NM_032645.4:c.864G>A | NP_116034.2:p.Ala288= | |
| XM_005253042.2:c.987G>A | XP_005253099.1:p.Ala329= | |
| XM_005253043.2:c.918G>A | XP_005253100.1:p.Ala306= | |
| XM_011520252.1:c.1126G>A | XP_011518554.1:p.Ala376Thr | |
| XM_011520253.1:c.1065G>A | XP_011518555.1:p.Ala355= | |
| XM_005253042.3:c.987G>A | XP_005253099.1:p.Ala329= | |
| XM_005253043.3:c.918G>A | XP_005253100.1:p.Ala306= | |
| NM_005055.5:c.1041G>A MANE Select | NP_005046.2:p.Ala347= | |
| NM_032645.5:c.864G>A | NP_116034.2:p.Ala288= |