Canonical Allele Identifier: CA1027923227
Gene:

Linked Data

dbSNP Id: rs1664552436
gnomAD v3: 2-16458236-T-G
gnomAD v4: 2-16458236-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.16458236T>G , CM000664.2:g.16458236T>G GRCh38
NC_000002.11:g.16639504T>G , CM000664.1:g.16639504T>G GRCh37
NC_000002.10:g.16502985T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939752.1:n.396-3142A>C