Canonical Allele Identifier:
CA1910241452
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52743758A>T , CM000672.2:g.52743758A>T | GRCh38 |
| NC_000010.10:g.54503518A>T , CM000672.1:g.54503518A>T | GRCh37 |
| NC_000010.9:g.54173524A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945961.1:n.259+11548T>A | ||
| XR_945962.1:n.259+11548T>A | ||
| NR_155748.1:n.95+11552T>A | ||
| XR_945961.3:n.9306+11548T>A | ||
| XR_945962.3:n.9306+11548T>A |