Canonical Allele Identifier: CA1059429945
Gene:

Linked Data

dbSNP Id: rs1161273040
gnomAD v3: 4-12578086-G-A
gnomAD v4: 4-12578086-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578086G>A , CM000666.2:g.12578086G>A GRCh38
NC_000004.11:g.12579710G>A , CM000666.1:g.12579710G>A GRCh37
NC_000004.10:g.12188808G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925406.1:n.106+31256C>T
XR_001741374.1:n.254+44569C>T
XR_925406.3:n.140+31256C>T
Search 100 bp 5'
Search 100 bp 3'