Canonical Allele Identifier: CA1303189
Gene:

Linked Data

dbSNP Id: rs747241730
ExAC: 1:193090896 T / C
gnomAD v2: 1-193090896-T-C
gnomAD v3: 1-193121766-T-C
gnomAD v4: 1-193121766-T-C
MyVariant Identifiers: chr1:g.193090896T>C (hg19) chr1:g.193121766T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121766T>C , CM000663.2:g.193121766T>C GRCh38
NC_000001.10:g.193090896T>C , CM000663.1:g.193090896T>C GRCh37
NC_000001.9:g.191357519T>C NCBI36
NG_012691.1:g.4809T>C , LRG_507:g.4809T>C

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1891A>G
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