gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14893764A>T , CM000673.2:g.14893764A>T | GRCh38 |
| NC_000011.9:g.14915310A>T , CM000673.1:g.14915310A>T | GRCh37 |
| NC_000011.8:g.14871886A>T | NCBI36 |
| NG_007936.1:g.3442T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011519898.1:c.-1520T>A | XP_011518200.1:n.-1520T>A | |
| XM_011519898.3:c.-1520T>A | XP_011518200.1:n.-1520T>A |