Canonical Allele Identifier: CA797158568
Gene:

Linked Data

dbSNP Id: rs1258598582
gnomAD v3: 4-62558070-G-T
gnomAD v4: 4-62558070-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558070G>T , CM000666.2:g.62558070G>T GRCh38
NC_000004.11:g.63423788G>T , CM000666.1:g.63423788G>T GRCh37
NC_000004.10:g.63106383G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5774G>T