Canonical Allele Identifier: CA2659332953
Gene:

Linked Data

gnomAD v4: 2-65440170-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.65440170C>A , CM000664.2:g.65440170C>A GRCh38
NC_000002.11:g.65667304C>A , CM000664.1:g.65667304C>A GRCh37
NC_000002.10:g.65520808C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940190.1:n.181+3288C>A
XR_940187.3:n.1439-85G>T