Canonical Allele Identifier: CA1081186930
Gene:

Linked Data

dbSNP Id: rs1749023932
gnomAD v3: 5-126002688-G-T
gnomAD v4: 5-126002688-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002688G>T , CM000667.2:g.126002688G>T GRCh38
NC_000005.9:g.125338381G>T , CM000667.1:g.125338381G>T GRCh37
NC_000005.8:g.125366280G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948737.1:n.565+3652C>A
XR_948738.1:n.497+5852C>A
Search 100 bp 5'
Search 100 bp 3'