Canonical Allele Identifier: CA1111626468
Gene:

Linked Data

dbSNP Id: rs1563254704
gnomAD v3: 8-20734890-G-T
gnomAD v4: 8-20734890-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20734890G>T , CM000670.2:g.20734890G>T GRCh38
NC_000008.10:g.20592401G>T , CM000670.1:g.20592401G>T GRCh37
NC_000008.9:g.20636681G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949569.3:n.72-55556G>T