gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25022302 (NFE)
Genomes Max Group AF
0.25022302 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129468206T>A , CM000672.2:g.129468206T>A | GRCh38 |
| NC_000010.10:g.131266470T>A , CM000672.1:g.131266470T>A | GRCh37 |
| NC_000010.9:g.131156460T>A | NCBI36 |
| NG_052673.1:g.6023T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.81+910T>A | ENSP00000302111.7:n.81+910T>A | |
| ENST00000651593.1:c.-13+910T>A MANE Select | ENSP00000498729.1:n.-13+910T>A | |
| ENST00000306010.7:c.81+910T>A | ENSP00000302111.7:n.81+910T>A | |
| ENST00000482547.1:n.35+910T>A | ||
| ENST00000482653.1:n.68+910T>A | ||
| NM_002412.3:c.81+910T>A | NP_002403.2:n.81+910T>A | |
| NM_002412.4:c.81+910T>A | NP_002403.2:n.81+910T>A | |
| XM_005252682.2:c.-13+765T>A | XP_005252739.1:n.-13+765T>A | |
| NM_002412.5:c.-13+910T>A MANE Select | NP_002403.3:n.-13+910T>A |