gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86012784T>A , CM000670.2:g.86012784T>A | GRCh38 |
| NC_000008.10:g.87025013T>A , CM000670.1:g.87025013T>A | GRCh37 |
| NC_000008.9:g.87094129T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521564.1:c.-263+25384T>A | ENSP00000429731.1:n.-263+25384T>A |