gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41652439 (EAS)
Genomes Max Group AF
0.41652439 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6382781C>T , CM000674.2:g.6382781C>T | GRCh38 |
| NC_000012.11:g.6491947C>T , CM000674.1:g.6491947C>T | GRCh37 |
| NC_000012.10:g.6362208C>T | NCBI36 |
| NG_033039.1:g.12414C>T | |
| NG_033039.2:g.12414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539925.5:c.40-1807C>T | ENSP00000440875.1:n.40-1807C>T | |
| ENST00000542830.5:n.266-1807C>T | ||
| ENST00000546296.5:n.551-1807C>T | ||
| NM_001270987.1:c.40-1807C>T | NP_001257916.1:n.40-1807C>T | |
| NM_001270987.2:c.40-1807C>T | NP_001257916.1:n.40-1807C>T |