Canonical Allele Identifier:
CA1066131293
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102778621T>A , CM000666.2:g.102778621T>A | GRCh38 |
| NC_000004.11:g.103699778T>A , CM000666.1:g.103699778T>A | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125932.1:n.713-187T>A |