gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101639133A>G , CM000666.2:g.101639133A>G | GRCh38 |
| NC_000004.11:g.102560290A>G , CM000666.1:g.102560290A>G | GRCh37 |
| NC_000004.10:g.102779313A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504592.5:c.-255-30270A>G | ENSP00000421443.1:n.-255-30270A>G |