Canonical Allele Identifier: CA1099410356
Gene:

Linked Data

dbSNP Id: rs1791512224
gnomAD v3: 7-24413334-A-G
gnomAD v4: 7-24413334-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24413334A>G , CM000669.2:g.24413334A>G GRCh38
NC_000007.13:g.24452953A>G , CM000669.1:g.24452953A>G GRCh37
NC_000007.12:g.24419478A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.-89+31725T>C XP_016868399.1:n.-89+31725T>C
XM_017012911.1:c.-89+31725T>C XP_016868400.1:n.-89+31725T>C
XR_001745121.1:n.344+31725T>C
XR_001745122.1:n.344+31725T>C
XR_001745123.1:n.344+31725T>C
XR_001745124.1:n.344+31725T>C
XR_001745125.1:n.344+31725T>C
XR_001745126.1:n.344+31725T>C
XR_001745127.1:n.344+31725T>C
XR_001745129.1:n.344+31725T>C
XR_001745130.1:n.344+31725T>C
XR_001745131.1:n.344+31725T>C
XR_001745132.1:n.344+31725T>C
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