Canonical Allele Identifier: CA1029770006

Gene:

Linked Data

• dbSNP Id: rs1667991747
• gnomAD v3: 2-41534669-A-G
• gnomAD v4: 2-41534669-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.41534669A>G , CM000664.2:g.41534669A>G	GRCh38
NC_000002.11:g.41761809A>G , CM000664.1:g.41761809A>G	GRCh37
NC_000002.10:g.41615313A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939996.1:n.181+3057T>C
XR_939997.1:n.146+3057T>C
XR_939997.2:n.9529+3057T>C