gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1003842 (AFR)
Genomes Max Group AF
0.1003842 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101472713C>T , CM000669.2:g.101472713C>T | GRCh38 |
| NC_000007.13:g.101115994C>T , CM000669.1:g.101115994C>T | GRCh37 |
| NC_000007.12:g.100902714C>T | NCBI36 |
| NG_033785.2:g.114894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313669.12:c.385+24926C>T MANE Select | ENSP00000318234.8:n.385+24926C>T | |
| ENST00000313669.11:c.385+24926C>T | ENSP00000318234.8:n.385+24926C>T | |
| ENST00000613501.1:c.379+24926C>T | ENSP00000482102.1:n.379+24926C>T | |
| NM_001278563.2:c.385+24926C>T | NP_001265492.1:n.385+24926C>T | |
| NM_133457.4:c.379+24926C>T | NP_597714.2:n.379+24926C>T | |
| XM_017011743.1:c.385+24926C>T | XP_016867232.1:n.385+24926C>T | |
| XM_017011744.1:c.-6+24926C>T | XP_016867233.1:n.-6+24926C>T | |
| XM_017011745.1:c.-6+24926C>T | XP_016867234.1:n.-6+24926C>T | |
| NM_001278563.3:c.385+24926C>T MANE Select | NP_001265492.1:n.385+24926C>T | |
| NM_133457.5:c.379+24926C>T | NP_597714.2:n.379+24926C>T |