Canonical Allele Identifier: CA158340756
Gene:

Linked Data

dbSNP Id: rs550532759
gnomAD v2: 7-46392474-T-C
gnomAD v3: 7-46352876-T-C
gnomAD v4: 7-46352876-T-C
MyVariant Identifiers: chr7:g.46392474T>C (hg19) chr7:g.46352876T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.46352876T>C , CM000669.2:g.46352876T>C GRCh38
NC_000007.13:g.46392474T>C , CM000669.1:g.46392474T>C GRCh37
NC_000007.12:g.46358999T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927241.1:n.3045T>C
XR_927242.1:n.2953T>C
XR_927241.2:n.3045T>C
XR_927242.2:n.3010T>C
Search 100 bp 5'
Search 100 bp 3'