Canonical Allele Identifier: CA1069320633
Gene:

Linked Data

dbSNP Id: rs1732902760
gnomAD v3: 4-148748284-C-T
gnomAD v4: 4-148748284-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148748284C>T , CM000666.2:g.148748284C>T GRCh38
NC_000004.11:g.149669436C>T , CM000666.1:g.149669436C>T GRCh37
NC_000004.10:g.149888886C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001741441.1:n.1746-118473C>T
Search 100 bp 5'
Search 100 bp 3'