Canonical Allele Identifier: CA1064182237
Gene:

Linked Data

dbSNP Id: rs1721060650
gnomAD v3: 4-74554034-C-A
gnomAD v4: 4-74554034-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74554034C>A , CM000666.2:g.74554034C>A GRCh38
NC_000004.11:g.75419751C>A , CM000666.1:g.75419751C>A GRCh37
NC_000004.10:g.75638615C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741513.1:n.167-1202G>T
Search 100 bp 5'
Search 100 bp 3'