Canonical Allele Identifier: CA175153889

Gene:

Linked Data

• dbSNP Id: rs117413957
• gnomAD v2: 8-33665631-A-T
• gnomAD v3: 8-33808113-A-T
• gnomAD v4: 8-33808113-A-T
• MyVariant Identifiers: chr8:g.33665631A>T (hg19) ; chr8:g.33808113A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.33808113A>T , CM000670.2:g.33808113A>T	GRCh38
NC_000008.10:g.33665631A>T , CM000670.1:g.33665631A>T	GRCh37
NC_000008.9:g.33785173A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_949659.1:n.240+11677A>T
XR_002956701.1:n.240+11677A>T