Canonical Allele Identifier: CA543891890
Gene:

Linked Data

dbSNP Id: rs1428169809
gnomAD v2: 3-72315873-C-T
gnomAD v3: 3-72266722-C-T
gnomAD v4: 3-72266722-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72266722C>T , CM000665.2:g.72266722C>T GRCh38
NC_000003.11:g.72315873C>T , CM000665.1:g.72315873C>T GRCh37
NC_000003.10:g.72398563C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940958.1:n.835+8386G>A