gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11168094 (EAS)
Genomes Max Group AF
0.11168094 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32111790T>C , CM000668.2:g.32111790T>C | GRCh38 |
| NC_000006.11:g.32079567T>C , CM000668.1:g.32079567T>C | GRCh37 |
| NC_000006.10:g.32187545T>C | NCBI36 |
| NG_008337.2:g.2585A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442721.1:c.-9+3204A>G (TNXB) | ENSP00000389946.1:n.-9+3204A>G | |
| ENST00000494022.1:n.289+4914A>G (ATF6B) |