gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.86350752A>G , CM000676.2:g.86350752A>G | GRCh38 |
| NC_000014.8:g.86817096A>G , CM000676.1:g.86817096A>G | GRCh37 |
| NC_000014.7:g.85886849A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_944113.1:n.303-6742A>G | ||
| XR_944113.2:n.290-6742A>G |