Canonical Allele Identifier: CA230924498

Gene:

Linked Data

• dbSNP Id: rs1000884649
• gnomAD v2: 11-128325388-C-T
• gnomAD v3: 11-128455493-C-T
• gnomAD v4: 11-128455493-C-T
• MyVariant Identifiers: chr11:g.128325388C>T (hg19) ; chr11:g.128455493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128455493C>T , CM000673.2:g.128455493C>T	GRCh38
NC_000011.9:g.128325388C>T , CM000673.1:g.128325388C>T	GRCh37
NC_000011.8:g.127830598C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948164.1:n.4213C>T
XR_948165.1:n.3467+746C>T