Canonical Allele Identifier: CA915481067
Gene:

Linked Data

dbSNP Id: rs1562793222
gnomAD v2: 7-68612056-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69147069T>G , CM000669.2:g.69147069T>G GRCh38
NC_000007.13:g.68612056T>G , CM000669.1:g.68612056T>G GRCh37
NC_000007.12:g.68249992T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927647.1:n.88-943A>C
Search 100 bp 5'
Search 100 bp 3'