gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67240787 (NFE)
Genomes Max Group AF
0.67240787 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67903362C>G , CM000672.2:g.67903362C>G | GRCh38 |
| NC_000010.10:g.69663120C>G , CM000672.1:g.69663120C>G | GRCh37 |
| NC_000010.9:g.69333126C>G | NCBI36 |
| NG_050664.1:g.23701C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000212015.11:c.943-3428C>G MANE Select | ENSP00000212015.6:n.943-3428C>G | |
| ENST00000212015.10:c.943-3428C>G | ENSP00000212015.6:n.943-3428C>G | |
| ENST00000406900.5:c.-92-2801C>G | ENSP00000384508.1:n.-92-2801C>G | |
| ENST00000432464.5:c.58-3428C>G | ENSP00000409208.1:n.58-3428C>G | |
| ENST00000473922.1:n.487-3428C>G | ||
| NM_001142498.1:c.58-3428C>G | NP_001135970.1:n.58-3428C>G | |
| NM_001314049.1:c.-92-2801C>G | NP_001300978.1:n.-92-2801C>G | |
| NM_012238.4:c.943-3428C>G | NP_036370.2:n.943-3428C>G | |
| XM_006717737.2:c.790-3428C>G | XP_006717800.1:n.790-3428C>G | |
| XM_011539561.1:c.367-3428C>G | XP_011537863.1:n.367-3428C>G | |
| NM_012238.5:c.943-3428C>G MANE Select | NP_036370.2:n.943-3428C>G | |
| NM_001142498.2:c.58-3428C>G | NP_001135970.1:n.58-3428C>G |