Canonical Allele Identifier: CA2602395017

Gene:

Linked Data

• dbSNP Id: rs2130730740
• gnomAD v3: 8-97269739-T-C
• gnomAD v4: 8-97269739-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269739T>C , CM000670.2:g.97269739T>C	GRCh38
NC_000008.10:g.98281967T>C , CM000670.1:g.98281967T>C	GRCh37
NC_000008.9:g.98351143T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149331A>G