Canonical Allele Identifier: CA43254754
Gene:

Linked Data

dbSNP Id: rs1027111052
gnomAD v3: 2-16458365-T-A
gnomAD v4: 2-16458365-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.16458365T>A , CM000664.2:g.16458365T>A GRCh38
NC_000002.11:g.16639633T>A , CM000664.1:g.16639633T>A GRCh37
NC_000002.10:g.16503114T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939752.1:n.396-3271A>T