Canonical Allele Identifier: CA534498841
Gene:

Linked Data

dbSNP Id: rs1413513768
gnomAD v2: 2-88315597-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016078T>C , CM000664.2:g.88016078T>C GRCh38
NC_000002.11:g.88315597T>C , CM000664.1:g.88315597T>C GRCh37
NC_000002.10:g.88096712T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.423T>C
XR_940336.3:n.423T>C