Canonical Allele Identifier: CA2682048989
Gene:

Linked Data

gnomAD v4: 7-24291879-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24291879G>A , CM000669.2:g.24291879G>A GRCh38
NC_000007.13:g.24331498G>A , CM000669.1:g.24331498G>A GRCh37
NC_000007.12:g.24298023G>A NCBI36
NG_016148.1:g.12692G>A

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.41+27478C>T XP_016868399.1:n.41+27478C>T
XM_017012911.1:c.41+27478C>T XP_016868400.1:n.41+27478C>T
XR_001745121.1:n.473+27478C>T
XR_001745122.1:n.345-94850C>T
XR_001745123.1:n.473+27478C>T
XR_001745124.1:n.473+27478C>T
XR_001745125.1:n.473+27478C>T
XR_001745126.1:n.473+27478C>T
XR_001745127.1:n.345-36180C>T
XR_001745129.1:n.473+27478C>T
XR_001745130.1:n.473+27478C>T
XR_001745131.1:n.473+27478C>T
XR_001745132.1:n.473+27478C>T
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