Canonical Allele Identifier: CA157847104
Gene:

Linked Data

dbSNP Id: rs1018981
gnomAD v2: 7-41375123-C-A
gnomAD v3: 7-41335525-C-A
gnomAD v4: 7-41335525-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41335525C>A , CM000669.2:g.41335525C>A GRCh38
NC_000007.13:g.41375123C>A , CM000669.1:g.41375123C>A GRCh37
NC_000007.12:g.41341648C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927197.1:n.269+2834C>A
XR_927198.1:n.269+2834C>A
XR_927197.2:n.252+2834C>A
XR_927198.2:n.252+2834C>A