gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54118799 (AMR)
Genomes Max Group AF
0.54118799 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27710436G>A , CM000673.2:g.27710436G>A | GRCh38 |
| NC_000011.9:g.27731983G>A , CM000673.1:g.27731983G>A | GRCh37 |
| NC_000011.8:g.27688559G>A | NCBI36 |
| NG_011794.1:g.16623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314915.6:c.3+10976C>T | ENSP00000320002.6:n.3+10976C>T | |
| ENST00000395978.7:c.-22+9993C>T | ENSP00000379302.3:n.-22+9993C>T | |
| ENST00000395981.7:c.-22+9910C>T | ENSP00000379305.3:n.-22+9910C>T | |
| ENST00000525950.5:c.-22+10208C>T | ENSP00000432035.1:n.-22+10208C>T | |
| ENST00000532997.5:c.-22+9075C>T | ENSP00000435805.1:n.-22+9075C>T | |
| NM_001143805.1:c.-22+10208C>T | NP_001137277.1:n.-22+10208C>T | |
| NM_001143806.1:c.-22+9993C>T | NP_001137278.1:n.-22+9993C>T | |
| NM_001143807.1:c.-22+9075C>T | NP_001137279.1:n.-22+9075C>T | |
| NM_170731.4:c.3+10976C>T | NP_733927.1:n.3+10976C>T | |
| NM_170732.4:c.-22+9910C>T | NP_733928.1:n.-22+9910C>T | |
| NM_001143807.2:c.-22+9075C>T | NP_001137279.1:n.-22+9075C>T | |
| NM_170731.5:c.3+10976C>T | NP_733927.1:n.3+10976C>T |