gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30317535G>T , CM000668.2:g.30317535G>T | GRCh38 |
| NC_000006.11:g.30285312G>T , CM000668.1:g.30285312G>T | GRCh37 |
| NC_000006.10:g.30393291G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024052.2:n.804-3053C>A (HCG18) | ||
| NR_024053.2:n.803+8819C>A (HCG18) | ||
| NR_052012.1:n.126+8474C>A (HCG17) | ||
| NR_102326.1:n.803+8819C>A (HCG18) | ||
| NR_102327.1:n.1006+8616C>A (HCG18) |