Canonical Allele Identifier: CA1081186989
Gene:

Linked Data

gnomAD v3: 5-126002798-G-A
gnomAD v4: 5-126002798-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002798G>A , CM000667.2:g.126002798G>A GRCh38
NC_000005.9:g.125338491G>A , CM000667.1:g.125338491G>A GRCh37
NC_000005.8:g.125366390G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948737.1:n.565+3542C>T
XR_948738.1:n.497+5742C>T
Search 100 bp 5'
Search 100 bp 3'