Canonical Allele Identifier: CA952161975

Gene:

Linked Data

• dbSNP Id: rs1876324379
• gnomAD v3: 12-115398725-C-T
• gnomAD v4: 12-115398725-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115398725C>T , CM000674.2:g.115398725C>T	GRCh38
NC_000012.11:g.115836530C>T , CM000674.1:g.115836530C>T	GRCh37
NC_000012.10:g.114320913C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945389.1:n.697+8370G>A
XR_945389.2:n.701+8370G>A