Canonical Allele Identifier: CA960867021
Gene:

Linked Data

dbSNP Id: rs1879067500
gnomAD v3: 14-20793480-T-C
gnomAD v4: 14-20793480-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20793480T>C , CM000676.2:g.20793480T>C GRCh38
NC_000014.8:g.21261639T>C , CM000676.1:g.21261639T>C GRCh37
NC_000014.7:g.20331479T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943584.1:n.585+694T>C
XR_943585.1:n.585+694T>C
XR_001750620.1:n.3271+694T>C
XR_001750621.1:n.3271+694T>C
XR_001750622.1:n.637+6424A>G
XR_001750623.1:n.637+6424A>G
XR_001750624.1:n.637+6424A>G
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