Canonical Allele Identifier: CA2682047096
Gene:

Linked Data

gnomAD v4: 7-24284041-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24284041A>G , CM000669.2:g.24284041A>G GRCh38
NC_000007.13:g.24323660A>G , CM000669.1:g.24323660A>G GRCh37
NC_000007.12:g.24290185A>G NCBI36
NG_016148.1:g.4854A>G

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.42-28342T>C XP_016868399.1:n.42-28342T>C
XM_017012911.1:c.42-28342T>C XP_016868400.1:n.42-28342T>C
XR_001745121.1:n.473+35316T>C
XR_001745122.1:n.345-87012T>C
XR_001745123.1:n.473+35316T>C
XR_001745124.1:n.473+35316T>C
XR_001745125.1:n.473+35316T>C
XR_001745126.1:n.473+35316T>C
XR_001745127.1:n.345-28342T>C
XR_001745129.1:n.473+35316T>C
XR_001745130.1:n.473+35316T>C
XR_001745131.1:n.473+35316T>C
XR_001745132.1:n.473+35316T>C
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