Canonical Allele Identifier: CA2591630732

Gene:

Linked Data

• dbSNP Id: rs2113710086
• gnomAD v3: 6-8169584-G-C
• gnomAD v4: 6-8169584-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8169584G>C , CM000668.2:g.8169584G>C	GRCh38
NC_000006.11:g.8169817G>C , CM000668.1:g.8169817G>C	GRCh37
NC_000006.10:g.8114816G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926440.1:n.82+11324G>C
XR_926441.1:n.189+1664G>C
XR_926442.1:n.82+11324G>C
XR_926443.1:n.82+11324G>C
XR_001743950.1:n.179+1664G>C
XR_926440.2:n.74+11324G>C
XR_926441.2:n.179+1664G>C
XR_926443.2:n.83+11324G>C