Canonical Allele Identifier: CA1035662633

Gene:

Linked Data

• dbSNP Id: rs1690910567
• gnomAD v3: 2-120331927-C-G
• gnomAD v4: 2-120331927-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120331927C>G , CM000664.2:g.120331927C>G	GRCh38
NC_000002.11:g.121089503C>G , CM000664.1:g.121089503C>G	GRCh37
NC_000002.10:g.120805973C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011512307.1:c.141+3121C>G	XP_011510609.1:n.141+3121C>G