Canonical Allele Identifier: CA12565340
Gene:

Linked Data

dbSNP Id: rs6965168
gnomAD v2: 7-68611984-A-G
gnomAD v3: 7-69146997-A-G
gnomAD v4: 7-69146997-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69146997A>G , CM000669.2:g.69146997A>G GRCh38
NC_000007.13:g.68611984A>G , CM000669.1:g.68611984A>G GRCh37
NC_000007.12:g.68249920A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927647.1:n.88-871T>C