Canonical Allele Identifier: CA624727090
Gene:

Linked Data

dbSNP Id: rs1235551320
gnomAD v2: 17-8040891-G-T
gnomAD v3: 17-8137573-G-T
gnomAD v4: 17-8137573-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137573G>T , CM000679.2:g.8137573G>T GRCh38
NC_000017.10:g.8040891G>T , CM000679.1:g.8040891G>T GRCh37
NC_000017.9:g.7981616G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1276G>T
XR_934203.1:n.70-1904G>T
XR_934202.2:n.414-1276G>T