Canonical Allele Identifier: CA2605526337
Gene:

Linked Data

dbSNP Id: rs2114696299
gnomAD v3: 6-155812403-C-T
gnomAD v4: 6-155812403-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.155812403C>T , CM000668.2:g.155812403C>T GRCh38
NC_000006.11:g.156133537C>T , CM000668.1:g.156133537C>T GRCh37
NC_000006.10:g.156175229C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943142.1:n.79+18984C>T
XR_943146.1:n.645-364G>A
XR_001744423.1:n.699-364G>A
XR_001744424.1:n.79+18984C>T
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