Canonical Allele Identifier: CA1021127313

Gene:

Linked Data

• dbSNP Id: rs1981477032
• gnomAD v3: 21-22259273-G-T
• gnomAD v4: 21-22259273-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259273G>T , CM000683.2:g.22259273G>T	GRCh38
NC_000021.8:g.23631593G>T , CM000683.1:g.23631593G>T	GRCh37
NC_000021.7:g.22553464G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46460G>T