Canonical Allele Identifier: CA14006269

Gene:

Linked Data

• dbSNP Id: rs10483727
• gnomAD v2: 14-61072875-T-C
• gnomAD v3: 14-60606157-T-C
• gnomAD v4: 14-60606157-T-C
• MyVariant Identifiers: chr14:g.61072875T>C (hg19) ; chr14:g.60606157T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60606157T>C , CM000676.2:g.60606157T>C	GRCh38
NC_000014.8:g.61072875T>C , CM000676.1:g.61072875T>C	GRCh37
NC_000014.7:g.60142628T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011537451.1:c.1202-30865A>G	XP_011535753.1:n.1202-30865A>G
XM_011537451.3:c.1202-30865A>G	XP_011535753.1:n.1202-30865A>G