Canonical Allele Identifier: CA13977040

Gene:

Linked Data

• dbSNP Id: rs8013477
• gnomAD v2: 14-49534425-G-C
• gnomAD v3: 14-49067707-G-C
• gnomAD v4: 14-49067707-G-C
• MyVariant Identifiers: chr14:g.49534425G>C (hg19) ; chr14:g.49067707G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49067707G>C , CM000676.2:g.49067707G>C	GRCh38
NC_000014.8:g.49534425G>C , CM000676.1:g.49534425G>C	GRCh37
NC_000014.7:g.48604175G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943837.1:n.222+2085C>G
XR_943837.2:n.345+2085C>G