Canonical Allele Identifier: CA2600345652

Gene:

Linked Data

• dbSNP Id: rs2109791929
• gnomAD v3: 4-74554221-G-A
• gnomAD v4: 4-74554221-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554221G>A , CM000666.2:g.74554221G>A	GRCh38
NC_000004.11:g.75419938G>A , CM000666.1:g.75419938G>A	GRCh37
NC_000004.10:g.75638802G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1389C>T