Canonical Allele Identifier: CA841571720
Gene:

Linked Data

dbSNP Id: rs1184902642
gnomAD v3: 7-69146999-G-T
gnomAD v4: 7-69146999-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69146999G>T , CM000669.2:g.69146999G>T GRCh38
NC_000007.13:g.68611986G>T , CM000669.1:g.68611986G>T GRCh37
NC_000007.12:g.68249922G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927647.1:n.88-873C>A