Canonical Allele Identifier: CA230606020

Gene:

Linked Data

• dbSNP Id: rs553780910
• gnomAD v2: 11-128740834-C-T
• gnomAD v3: 11-128870939-C-T
• gnomAD v4: 11-128870939-C-T
• MyVariant Identifiers: chr11:g.128740834C>T (hg19) ; chr11:g.128870939C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128870939C>T , CM000673.2:g.128870939C>T	GRCh38
NC_000011.9:g.128740834C>T , CM000673.1:g.128740834C>T	GRCh37
NC_000011.8:g.128246044C>T	NCBI36
NG_009379.1:g.1435G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_948172.1:n.5972G>A
XR_948173.1:n.5661G>A