Canonical Allele Identifier: CA101614931
Gene:

Linked Data

dbSNP Id: rs13132688
gnomAD v3: 4-99090020-G-A
gnomAD v4: 4-99090020-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99090020G>A , CM000666.2:g.99090020G>A GRCh38
NC_000004.11:g.100011171G>A , CM000666.1:g.100011171G>A GRCh37
NC_000004.10:g.100230194G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_037884.1:n.428+736G>A