Canonical Allele Identifier: CA160479202
Gene:

Linked Data

dbSNP Id: rs1051116665
gnomAD v3: 7-69146917-T-C
gnomAD v4: 7-69146917-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69146917T>C , CM000669.2:g.69146917T>C GRCh38
NC_000007.13:g.68611904T>C , CM000669.1:g.68611904T>C GRCh37
NC_000007.12:g.68249840T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927647.1:n.88-791A>G