Canonical Allele Identifier: CA1029769869

Gene:

Linked Data

• dbSNP Id: rs1667990515
• gnomAD v3: 2-41534574-A-T
• gnomAD v4: 2-41534574-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.41534574A>T , CM000664.2:g.41534574A>T	GRCh38
NC_000002.11:g.41761714A>T , CM000664.1:g.41761714A>T	GRCh37
NC_000002.10:g.41615218A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939996.1:n.181+3152T>A
XR_939997.1:n.146+3152T>A
XR_939997.2:n.9529+3152T>A