Canonical Allele Identifier: CA2682049061
Gene:

Linked Data

dbSNP Id: rs2128234373
gnomAD v4: 7-24291948-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24291948C>A , CM000669.2:g.24291948C>A GRCh38
NC_000007.13:g.24331567C>A , CM000669.1:g.24331567C>A GRCh37
NC_000007.12:g.24298092C>A NCBI36
NG_016148.1:g.12761C>A

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.41+27409G>T XP_016868399.1:n.41+27409G>T
XM_017012911.1:c.41+27409G>T XP_016868400.1:n.41+27409G>T
XR_001745121.1:n.473+27409G>T
XR_001745122.1:n.345-94919G>T
XR_001745123.1:n.473+27409G>T
XR_001745124.1:n.473+27409G>T
XR_001745125.1:n.473+27409G>T
XR_001745126.1:n.473+27409G>T
XR_001745127.1:n.345-36249G>T
XR_001745129.1:n.473+27409G>T
XR_001745130.1:n.473+27409G>T
XR_001745131.1:n.473+27409G>T
XR_001745132.1:n.473+27409G>T
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