Canonical Allele Identifier: CA156301745
Gene:

Linked Data

dbSNP Id: rs866100780
gnomAD v2: 7-26645468-T-C
gnomAD v3: 7-26605849-T-C
gnomAD v4: 7-26605849-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.26605849T>C , CM000669.2:g.26605849T>C GRCh38
NC_000007.13:g.26645468T>C , CM000669.1:g.26645468T>C GRCh37
NC_000007.12:g.26611993T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927131.1:n.1118-6479A>G
XR_927131.2:n.1186-6479A>G