gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01556471 (NFE)
Genomes Max Group AF
0.01556471 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75430050T>G , CM000669.2:g.75430050T>G | GRCh38 |
| NC_000007.13:g.75059331T>G , CM000669.1:g.75059331T>G | GRCh37 |
| NC_000007.12:g.74897267T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615331.5:c.481-3597A>C MANE Select | ENSP00000481575.1:n.481-3597A>C | |
| ENST00000439629.2:c.97-3597A>C | ENSP00000410033.1:n.97-3597A>C | |
| ENST00000473168.1:n.40-4342A>C | ||
| ENST00000479864.1:n.155-3597A>C | ||
| ENST00000607367.5:c.1207-3597A>C | ENSP00000476236.2:n.1207-3597A>C | |
| ENST00000615331.4:c.481-3597A>C | ENSP00000481575.1:n.481-3597A>C | |
| NM_001099415.2:c.481-3597A>C | NP_001092885.2:n.481-3597A>C | |
| XM_011515689.1:c.1291-5422A>C | XP_011513991.1:n.1291-5422A>C | |
| NM_001099415.3:c.481-3597A>C MANE Select | NP_001092885.2:n.481-3597A>C |