Canonical Allele Identifier: CA1099423921
Gene:

Linked Data

dbSNP Id: rs961850515
gnomAD v3: 7-24283485-C-A
gnomAD v4: 7-24283485-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24283485C>A , CM000669.2:g.24283485C>A GRCh38
NC_000007.13:g.24323104C>A , CM000669.1:g.24323104C>A GRCh37
NC_000007.12:g.24289629C>A NCBI36
NG_016148.1:g.4298C>A

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.42-27786G>T XP_016868399.1:n.42-27786G>T
XM_017012911.1:c.42-27786G>T XP_016868400.1:n.42-27786G>T
XR_001745121.1:n.473+35872G>T
XR_001745122.1:n.345-86456G>T
XR_001745123.1:n.473+35872G>T
XR_001745124.1:n.473+35872G>T
XR_001745125.1:n.473+35872G>T
XR_001745126.1:n.473+35872G>T
XR_001745127.1:n.345-27786G>T
XR_001745129.1:n.473+35872G>T
XR_001745130.1:n.473+35872G>T
XR_001745131.1:n.473+35872G>T
XR_001745132.1:n.473+35872G>T
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