Canonical Allele Identifier: CA16841596
Gene:

Linked Data

dbSNP Id: rs577387660
gnomAD v3: 1-2036392-G-A
gnomAD v4: 1-2036392-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2036392G>A , CM000663.2:g.2036392G>A GRCh38
NC_000001.10:g.1967831G>A , CM000663.1:g.1967831G>A GRCh37
NC_000001.9:g.1957691G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_946823.1:n.773+43C>T
XR_001737845.2:n.819C>T
XR_946823.3:n.776+43C>T