Canonical Allele Identifier: CA575244621
Gene:

Linked Data

dbSNP Id: rs191638893
gnomAD v2: 7-68611934-G-C
gnomAD v3: 7-69146947-G-C
gnomAD v4: 7-69146947-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69146947G>C , CM000669.2:g.69146947G>C GRCh38
NC_000007.13:g.68611934G>C , CM000669.1:g.68611934G>C GRCh37
NC_000007.12:g.68249870G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927647.1:n.88-821C>G