Canonical Allele Identifier: CA1057529196

Gene:

Linked Data

• dbSNP Id: rs1715479795
• gnomAD v3: 3-187931686-G-C
• gnomAD v4: 3-187931686-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187931686G>C , CM000665.2:g.187931686G>C	GRCh38
NC_000003.11:g.187649474G>C , CM000665.1:g.187649474G>C	GRCh37
NC_000003.10:g.189132168G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_924814.1:n.1228C>G