Canonical Allele Identifier: CA1139433242

Gene:

Linked Data

• dbSNP Id: rs2043454995
• gnomAD v3: Y-15286723-T-C
• gnomAD v4: Y-15286723-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.15286723T>C , CM000686.2:g.15286723T>C	GRCh38
NC_000024.9:g.17398603T>C , CM000686.1:g.17398603T>C	GRCh37
NC_000024.8:g.15907997T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001756089.1:n.310-39545A>G