Canonical Allele Identifier: CA71252414
Gene:

Linked Data

dbSNP Id: rs754608461
gnomAD v3: 3-21207246-C-T
gnomAD v4: 3-21207246-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.21207246C>T , CM000665.2:g.21207246C>T GRCh38
NC_000003.11:g.21248738C>T , CM000665.1:g.21248738C>T GRCh37
NC_000003.10:g.21223742C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940646.1:n.254-3752C>T
XR_940646.2:n.547-3752C>T