ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00054319 (NFE)
Genomes Max Group AF
0.00037917 (NFE)
Exomes Max Group AF
0.00054576 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157323484C>T , CM000668.2:g.157323484C>T | GRCh38 |
| NC_000006.11:g.157744516C>T , CM000668.1:g.157744516C>T | GRCh37 |
| NC_000006.10:g.157664504C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400788.9:c.16G>A MANE Select | ENSP00000383594.3:p.Ala6Thr | |
| ENST00000367144.4:c.16G>A | ENSP00000356112.3:p.Ala6Thr | |
| ENST00000400788.8:c.16G>A | ENSP00000383594.3:p.Ala6Thr | |
| NM_018452.5:c.16G>A | NP_060922.2:p.Ala6Thr | |
| NM_018452.6:c.16G>A MANE Select | NP_060922.2:p.Ala6Thr |