Canonical Allele Identifier: CA12866388
Gene:

Linked Data

dbSNP Id: rs2583506
gnomAD v2: 8-98281847-G-A
gnomAD v3: 8-97269619-G-A
gnomAD v4: 8-97269619-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269619G>A , CM000670.2:g.97269619G>A GRCh38
NC_000008.10:g.98281847G>A , CM000670.1:g.98281847G>A GRCh37
NC_000008.9:g.98351023G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_125390.1:n.471+149451C>T