Canonical Allele Identifier: CA1081186953
Gene:

Linked Data

dbSNP Id: rs1749024253
gnomAD v3: 5-126002719-C-G
gnomAD v4: 5-126002719-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002719C>G , CM000667.2:g.126002719C>G GRCh38
NC_000005.9:g.125338412C>G , CM000667.1:g.125338412C>G GRCh37
NC_000005.8:g.125366311C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948737.1:n.565+3621G>C
XR_948738.1:n.497+5821G>C
Search 100 bp 5'
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