Canonical Allele Identifier: CA928817905

Gene:

Linked Data

• dbSNP Id: rs1839461415
• gnomAD v3: 10-57812808-G-C
• gnomAD v4: 10-57812808-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.57812808G>C , CM000672.2:g.57812808G>C	GRCh38
NC_000010.10:g.59572568G>C , CM000672.1:g.59572568G>C	GRCh37
NC_000010.9:g.59242574G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945979.1:n.68+34484C>G
XR_001747454.1:n.85+34484C>G