Canonical Allele Identifier: CA160282237
Gene:

Linked Data

dbSNP Id: rs10263639
gnomAD v2: 7-67059267-T-C
gnomAD v3: 7-67594280-T-C
gnomAD v4: 7-67594280-T-C
MyVariant Identifiers: chr7:g.67059267T>C (hg19) chr7:g.67594280T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.67594280T>C , CM000669.2:g.67594280T>C GRCh38
NC_000007.13:g.67059267T>C , CM000669.1:g.67059267T>C GRCh37
NC_000007.12:g.66696702T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745238.2:n.163+8031A>G
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