gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24628328 (NFE)
Genomes Max Group AF
0.24628328 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.56955143T>C , CM000666.2:g.56955143T>C | GRCh38 |
| NC_000004.11:g.57821309T>C , CM000666.1:g.57821309T>C | GRCh37 |
| NC_000004.10:g.57516066T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640168.2:c.899-11513T>C | ENSP00000490969.1:n.899-11513T>C | |
| ENST00000640343.2:c.983-11513T>C | ENSP00000492813.1:n.983-11513T>C |