Canonical Allele Identifier: CA587286369
Gene:

Linked Data

dbSNP Id: rs1213094942
gnomAD v2: 9-25551386-G-A
gnomAD v3: 9-25551388-G-A
gnomAD v4: 9-25551388-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551388G>A , CM000671.2:g.25551388G>A GRCh38
NC_000009.11:g.25551386G>A , CM000671.1:g.25551386G>A GRCh37
NC_000009.10:g.25541386G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-816C>T
XR_929525.2:n.674-816C>T