ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002551 (AFR)
Genomes Max Group AF
0.00003249 (AFR)
Exomes Max Group AF
3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58431644T>C , CM000665.2:g.58431644T>C | GRCh38 |
| NC_000003.11:g.58417371T>C , CM000665.1:g.58417371T>C | GRCh37 |
| NC_000003.10:g.58392411T>C | NCBI36 |
| NG_016860.1:g.7209A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302746.11:c.268-16A>G MANE Select | ENSP00000307241.6:n.268-16A>G | |
| ENST00000302746.10:c.268-16A>G | ENSP00000307241.6:n.268-16A>G | |
| ENST00000383714.8:c.214-16A>G | ENSP00000373220.4:n.214-16A>G | |
| ENST00000461692.5:n.381-16A>G | ||
| ENST00000469364.5:c.268-16A>G | ENSP00000419580.1:n.268-16A>G | |
| ENST00000469827.1:n.374A>G | ||
| ENST00000474765.1:c.214-16A>G | ENSP00000418448.1:n.214-16A>G | |
| ENST00000479945.1:n.2007A>G | ||
| ENST00000480626.5:n.360-16A>G | ||
| ENST00000482894.5:n.287-16A>G | ||
| ENST00000485460.5:c.268-16A>G | ENSP00000417267.1:n.268-16A>G | |
| NM_000925.3:c.268-16A>G | NP_000916.2:n.268-16A>G | |
| NM_001173468.1:c.268-16A>G | NP_001166939.1:n.268-16A>G | |
| NM_001315536.1:c.214-16A>G | NP_001302465.1:n.214-16A>G | |
| NR_033384.1:n.381-16A>G | ||
| NM_000925.4:c.268-16A>G MANE Select | NP_000916.2:n.268-16A>G | |
| NM_001173468.2:c.268-16A>G | NP_001166939.1:n.268-16A>G | |
| NM_001315536.2:c.214-16A>G | NP_001302465.1:n.214-16A>G | |
| NR_033384.2:n.374-16A>G |