Canonical Allele Identifier: CA1028182245

Gene:

Linked Data

• dbSNP Id: rs1691636941
• gnomAD v3: 2-20485758-G-T
• gnomAD v4: 2-20485758-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20485758G>T , CM000664.2:g.20485758G>T	GRCh38
NC_000002.11:g.20685519G>T , CM000664.1:g.20685519G>T	GRCh37
NC_000002.10:g.20549000G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_157978.1:n.530+2980C>A