Canonical Allele Identifier: CA1108532883
Gene:

Linked Data

dbSNP Id: rs1801705333
gnomAD v3: 7-148807232-A-G
gnomAD v4: 7-148807232-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807232A>G , CM000669.2:g.148807232A>G GRCh38
NC_000007.13:g.148504324A>G , CM000669.1:g.148504324A>G GRCh37
NC_000007.12:g.148135257A>G NCBI36
NG_032043.1:g.82118T>C , LRG_531:g.82118T>C

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2147A>G
XR_928102.1:n.722+2147A>G
Search 100 bp 5'
Search 100 bp 3'