Canonical Allele Identifier: CA862567929
Gene:

Linked Data

dbSNP Id: rs1004907578
gnomAD v3: 9-25551078-C-A
gnomAD v4: 9-25551078-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551078C>A , CM000671.2:g.25551078C>A GRCh38
NC_000009.11:g.25551076C>A , CM000671.1:g.25551076C>A GRCh37
NC_000009.10:g.25541076C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929525.1:n.50-506G>T
XR_929525.2:n.674-506G>T