Canonical Allele Identifier: CA1077893073

Gene:

Linked Data

• dbSNP Id: rs1753647065
• gnomAD v3: 5-79549953-C-T
• gnomAD v4: 5-79549953-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549953C>T , CM000667.2:g.79549953C>T	GRCh38
NC_000005.9:g.78845776C>T , CM000667.1:g.78845776C>T	GRCh37
NC_000005.8:g.78881532C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948497.1:n.72+2309C>T
XR_948498.1:n.159+2116C>T
XR_948499.1:n.67+1651C>T
XR_948497.2:n.72+2309C>T
XR_948498.2:n.159+2116C>T
XR_948499.2:n.225+1651C>T