Canonical Allele Identifier: CA1064182238
Gene:

Linked Data

dbSNP Id: rs1578880314
gnomAD v3: 4-74554035-T-G
gnomAD v4: 4-74554035-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74554035T>G , CM000666.2:g.74554035T>G GRCh38
NC_000004.11:g.75419752T>G , CM000666.1:g.75419752T>G GRCh37
NC_000004.10:g.75638616T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741513.1:n.167-1203A>C
Search 100 bp 5'
Search 100 bp 3'