Canonical Allele Identifier: CA158340758
Gene:

Linked Data

dbSNP Id: rs188855492
gnomAD v2: 7-46392488-T-C
gnomAD v3: 7-46352890-T-C
gnomAD v4: 7-46352890-T-C
MyVariant Identifiers: chr7:g.46392488T>C (hg19) chr7:g.46352890T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.46352890T>C , CM000669.2:g.46352890T>C GRCh38
NC_000007.13:g.46392488T>C , CM000669.1:g.46392488T>C GRCh37
NC_000007.12:g.46359013T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927241.1:n.3059T>C
XR_927242.1:n.2967T>C
XR_927241.2:n.3059T>C
XR_927242.2:n.3024T>C
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