ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29201921 (NFE)
Genomes Max Group AF
0.28757793 (NFE)
Exomes Max Group AF
0.29210853 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49664550G>A , CM000665.2:g.49664550G>A | GRCh38 |
| NC_000003.11:g.49701983G>A , CM000665.1:g.49701983G>A | GRCh37 |
| NC_000003.10:g.49676987G>A | NCBI36 |
| NG_015892.1:g.115062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296452.5:c.11736G>A MANE Select | ENSP00000296452.4:p.Thr3912= | |
| ENST00000296452.4:c.11736G>A | ENSP00000296452.4:p.Thr3912= | |
| NM_003458.3:c.11736G>A | NP_003449.2:p.Thr3912= | |
| NM_003458.4:c.11736G>A MANE Select | NP_003449.2:p.Thr3912= |