Canonical Allele Identifier:
CA997806884
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2567423G>A , CM000663.2:g.2567423G>A | GRCh38 |
| NC_000001.10:g.2498862G>A , CM000663.1:g.2498862G>A | GRCh37 |
| NC_000001.9:g.2475556C>T | NCBI36 |
| NG_047096.1:g.16059G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121638.1:n.71+818G>A |