Canonical Allele Identifier: CA1099423942
Gene:

Linked Data

dbSNP Id: rs1287366176
gnomAD v3: 7-24283552-A-G
gnomAD v4: 7-24283552-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24283552A>G , CM000669.2:g.24283552A>G GRCh38
NC_000007.13:g.24323171A>G , CM000669.1:g.24323171A>G GRCh37
NC_000007.12:g.24289696A>G NCBI36
NG_016148.1:g.4365A>G

Transcript Alleles

HGVS Amino-acid change
XM_017012910.1:c.42-27853T>C XP_016868399.1:n.42-27853T>C
XM_017012911.1:c.42-27853T>C XP_016868400.1:n.42-27853T>C
XR_001745121.1:n.473+35805T>C
XR_001745122.1:n.345-86523T>C
XR_001745123.1:n.473+35805T>C
XR_001745124.1:n.473+35805T>C
XR_001745125.1:n.473+35805T>C
XR_001745126.1:n.473+35805T>C
XR_001745127.1:n.345-27853T>C
XR_001745129.1:n.473+35805T>C
XR_001745130.1:n.473+35805T>C
XR_001745131.1:n.473+35805T>C
XR_001745132.1:n.473+35805T>C
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