Canonical Allele Identifier: CA2682049023
Gene:

Linked Data

gnomAD v4: 7-24291904-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24291904T>G , CM000669.2:g.24291904T>G GRCh38
NC_000007.13:g.24331523T>G , CM000669.1:g.24331523T>G GRCh37
NC_000007.12:g.24298048T>G NCBI36
NG_016148.1:g.12717T>G

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.41+27453A>C XP_016868399.1:n.41+27453A>C
XM_017012911.1:c.41+27453A>C XP_016868400.1:n.41+27453A>C
XR_001745121.1:n.473+27453A>C
XR_001745122.1:n.345-94875A>C
XR_001745123.1:n.473+27453A>C
XR_001745124.1:n.473+27453A>C
XR_001745125.1:n.473+27453A>C
XR_001745126.1:n.473+27453A>C
XR_001745127.1:n.345-36205A>C
XR_001745129.1:n.473+27453A>C
XR_001745130.1:n.473+27453A>C
XR_001745131.1:n.473+27453A>C
XR_001745132.1:n.473+27453A>C
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