Canonical Allele Identifier: CA532206412
Gene:

Linked Data

dbSNP Id: rs1408016280
gnomAD v2: 2-41761862-G-A
gnomAD v3: 2-41534722-G-A
gnomAD v4: 2-41534722-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534722G>A , CM000664.2:g.41534722G>A GRCh38
NC_000002.11:g.41761862G>A , CM000664.1:g.41761862G>A GRCh37
NC_000002.10:g.41615366G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3004C>T
XR_939997.1:n.146+3004C>T
XR_939997.2:n.9529+3004C>T