Canonical Allele Identifier: CA185200372

Gene:

Linked Data

• dbSNP Id: rs933014343
• gnomAD v2: 8-123407937-T-C
• gnomAD v3: 8-122395698-T-C
• gnomAD v4: 8-122395698-T-C
• MyVariant Identifiers: chr8:g.123407937T>C (hg19) ; chr8:g.122395698T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122395698T>C , CM000670.2:g.122395698T>C	GRCh38
NC_000008.10:g.123407937T>C , CM000670.1:g.123407937T>C	GRCh37
NC_000008.9:g.123477118T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3474A>G
XR_928599.3:n.152+3474A>G