gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96266553A>T , CM000677.2:g.96266553A>T | GRCh38 |
| NC_000015.9:g.96809782A>T , CM000677.1:g.96809782A>T | GRCh37 |
| NC_000015.8:g.94610786A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_102743.1:n.983T>A | ||
| NR_125738.1:n.317+24077T>A |