Canonical Allele Identifier: CA1674885543
Gene:

Linked Data

dbSNP Id: rs1778854050
gnomAD v3: 6-155812313-T-C
gnomAD v4: 6-155812313-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.155812313T>C , CM000668.2:g.155812313T>C GRCh38
NC_000006.11:g.156133447T>C , CM000668.1:g.156133447T>C GRCh37
NC_000006.10:g.156175139T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943142.1:n.79+18894T>C
XR_943146.1:n.645-274A>G
XR_001744423.1:n.699-274A>G
XR_001744424.1:n.79+18894T>C
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