gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22034720G>C , CM000671.2:g.22034720G>C | GRCh38 |
| NC_000009.11:g.22034719G>C , CM000671.1:g.22034719G>C | GRCh37 |
| NC_000009.10:g.22024719G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.846+1734G>C | ||
| NR_047532.1:n.533+5126G>C | ||
| NR_047533.1:n.372-12031G>C | ||
| NR_047534.1:n.372-12031G>C | ||
| NR_047535.1:n.372-12031G>C | ||
| NR_047536.1:n.372-12031G>C | ||
| NR_047537.1:n.372-12031G>C | ||
| NR_047538.1:n.372-12031G>C | ||
| NR_047539.1:n.846+1734G>C | ||
| NR_047540.1:n.372-12031G>C | ||
| NR_047541.1:n.372-12031G>C | ||
| NR_047542.1:n.372-12031G>C | ||
| NR_047543.1:n.372-12031G>C | ||
| NR_120536.1:n.372-12031G>C |