Canonical Allele Identifier: CA76316040
Gene:

Linked Data

dbSNP Id: rs912680589
gnomAD v3: 3-61427948-C-T
gnomAD v4: 3-61427948-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.61427948C>T , CM000665.2:g.61427948C>T GRCh38
NC_000003.11:g.61413622C>T , CM000665.1:g.61413622C>T GRCh37
NC_000003.10:g.61388662C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940892.1:n.165-262G>A
XR_940893.1:n.164+566G>A
XR_001740725.1:n.202+566G>A
XR_940892.2:n.203-262G>A