Canonical Allele Identifier: CA607406240

Gene:

Linked Data

• dbSNP Id: rs924726154
• gnomAD v2: 12-102895199-G-T
• gnomAD v3: 12-102501421-G-T
• gnomAD v4: 12-102501421-G-T
• MyVariant Identifiers: chr12:g.102895199G>T (hg19) ; chr12:g.102501421G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102501421G>T , CM000674.2:g.102501421G>T	GRCh38
NC_000012.11:g.102895199G>T , CM000674.1:g.102895199G>T	GRCh37
NC_000012.10:g.101419329G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001749289.1:n.1952+17533G>T