Canonical Allele Identifier: CA543891948
Gene:

Linked Data

dbSNP Id: rs1167635399
gnomAD v2: 3-72316003-A-T
gnomAD v3: 3-72266852-A-T
gnomAD v4: 3-72266852-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72266852A>T , CM000665.2:g.72266852A>T GRCh38
NC_000003.11:g.72316003A>T , CM000665.1:g.72316003A>T GRCh37
NC_000003.10:g.72398693A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940958.1:n.835+8256T>A