Canonical Allele Identifier: CA849667478
Gene:

Linked Data

dbSNP Id: rs1024151545
gnomAD v3: 8-20734976-G-T
gnomAD v4: 8-20734976-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20734976G>T , CM000670.2:g.20734976G>T GRCh38
NC_000008.10:g.20592487G>T , CM000670.1:g.20592487G>T GRCh37
NC_000008.9:g.20636767G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949569.3:n.72-55470G>T