Canonical Allele Identifier: CA127628859

Gene:

Linked Data

• dbSNP Id: rs532396043
• gnomAD v2: 5-128722653-C-T
• gnomAD v3: 5-129386960-C-T
• gnomAD v4: 5-129386960-C-T
• MyVariant Identifiers: chr5:g.128722653C>T (hg19) ; chr5:g.129386960C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.129386960C>T , CM000667.2:g.129386960C>T	GRCh38
NC_000005.9:g.128722653C>T , CM000667.1:g.128722653C>T	GRCh37
NC_000005.8:g.128750552C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_427770.2:n.163-1488C>T
XR_948774.1:n.235-5691C>T
XR_001742463.1:n.4089-1488C>T
XR_001742464.1:n.2019-5691C>T
XR_001742465.1:n.401-1488C>T
XR_427770.3:n.337-1488C>T