Canonical Allele Identifier: CA910080612
Gene:

Linked Data

dbSNP Id: rs1298412335
gnomAD v3: 3-72266837-C-T
gnomAD v4: 3-72266837-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72266837C>T , CM000665.2:g.72266837C>T GRCh38
NC_000003.11:g.72315988C>T , CM000665.1:g.72315988C>T GRCh37
NC_000003.10:g.72398678C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940958.1:n.835+8271G>A