gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43762018G>A , CM000668.2:g.43762018G>A | GRCh38 |
| NC_000006.11:g.43729755G>A , CM000668.1:g.43729755G>A | GRCh37 |
| NC_000006.10:g.43837733G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001318876.2:c.945+232747G>A | NP_001305805.1:n.945+232747G>A |