Canonical Allele Identifier: CA999297681
Gene:

Linked Data

dbSNP Id: rs2045189699
gnomAD v3: 1-19874521-C-G
gnomAD v4: 1-19874521-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.19874521C>G , CM000663.2:g.19874521C>G GRCh38
NC_000001.10:g.20201014C>G , CM000663.1:g.20201014C>G GRCh37
NC_000001.9:g.20073601C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947027.1:n.266-8769G>C
XR_947028.1:n.266-8769G>C
XR_947027.2:n.167-8769G>C
XR_947028.2:n.167-8769G>C