Canonical Allele Identifier: CA1085752604

Gene:

Linked Data

• dbSNP Id: rs1759191122
• gnomAD v3: 6-8169513-C-T
• gnomAD v4: 6-8169513-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8169513C>T , CM000668.2:g.8169513C>T	GRCh38
NC_000006.11:g.8169746C>T , CM000668.1:g.8169746C>T	GRCh37
NC_000006.10:g.8114745C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926440.1:n.82+11253C>T
XR_926441.1:n.189+1593C>T
XR_926442.1:n.82+11253C>T
XR_926443.1:n.82+11253C>T
XR_001743950.1:n.179+1593C>T
XR_926440.2:n.74+11253C>T
XR_926441.2:n.179+1593C>T
XR_926443.2:n.83+11253C>T