Canonical Allele Identifier: CA2600345650
Gene:

Linked Data

dbSNP Id: rs2109791859
gnomAD v3: 4-74554002-G-A
gnomAD v4: 4-74554002-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74554002G>A , CM000666.2:g.74554002G>A GRCh38
NC_000004.11:g.75419719G>A , CM000666.1:g.75419719G>A GRCh37
NC_000004.10:g.75638583G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741513.1:n.167-1170C>T
Search 100 bp 5'
Search 100 bp 3'