ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00005823 (MID)
Exomes Max Group AF
0.00006098 (MID)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.58053929G>A , CM000681.2:g.58053929G>A | GRCh38 |
| NC_000019.9:g.58565297G>A , CM000681.1:g.58565297G>A | GRCh37 |
| NC_000019.8:g.63257109G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282326.6:c.1105G>A MANE Select | ENSP00000282326.1:p.Gly369Ser | |
| ENST00000282326.5:c.1105G>A | ENSP00000282326.1:p.Gly369Ser | |
| NM_182572.3:c.1105G>A | NP_872378.3:p.Gly369Ser | |
| XM_006723149.2:c.1225G>A | XP_006723212.1:p.Gly409Ser | |
| XM_011526768.1:c.1225G>A | XP_011525070.1:p.Gly409Ser | |
| XM_011526769.1:c.826G>A | XP_011525071.1:p.Gly276Ser | |
| XM_011526770.1:c.1105G>A | XP_011525072.1:p.Gly369Ser | |
| NM_182572.4:c.1105G>A MANE Select | NP_872378.3:p.Gly369Ser |