Canonical Allele Identifier:
CA807561708
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.171724227T>A , CM000667.2:g.171724227T>A | GRCh38 |
| NC_000005.9:g.171151231T>A , CM000667.1:g.171151231T>A | GRCh37 |
| NC_000005.8:g.171083836T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_941219.1:n.3633A>T | ||
| XR_941220.1:n.1956+1677A>T | ||
| XR_001742980.1:n.3391A>T | ||
| XR_001742981.1:n.3306A>T | ||
| XR_001742982.1:n.3179A>T | ||
| XR_001742983.1:n.1628+1677A>T | ||
| XR_001742984.1:n.3253A>T | ||
| XR_941218.2:n.2991A>T |