Canonical Allele Identifier: CA522076211
Gene:

Linked Data

dbSNP Id: rs1219816086
gnomAD v2: 1-34989291-C-G
gnomAD v3: 1-34523690-C-G
gnomAD v4: 1-34523690-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34523690C>G , CM000663.2:g.34523690C>G GRCh38
NC_000001.10:g.34989291C>G , CM000663.1:g.34989291C>G GRCh37
NC_000001.9:g.34761878C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947171.1:n.1073+23889G>C
XR_001737964.1:n.991+23889G>C