Canonical Allele Identifier: CA924732475

Gene:

Linked Data

• dbSNP Id: rs1833394793
• gnomAD v3: 10-8659187-T-C
• gnomAD v4: 10-8659187-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8659187T>C , CM000672.2:g.8659187T>C	GRCh38
NC_000010.10:g.8701150T>C , CM000672.1:g.8701150T>C	GRCh37
NC_000010.9:g.8741156T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_930641.1:n.161A>G
XR_001747277.1:n.130A>G