Canonical Allele Identifier: CA1303209
Gene:

Linked Data

dbSNP Id: rs781518349
ExAC: 1:193091003 C / T
gnomAD v2: 1-193091003-C-T
gnomAD v4: 1-193121873-C-T
MyVariant Identifiers: chr1:g.193091003C>T (hg19) chr1:g.193121873C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121873C>T , CM000663.2:g.193121873C>T GRCh38
NC_000001.10:g.193091003C>T , CM000663.1:g.193091003C>T GRCh37
NC_000001.9:g.191357626C>T NCBI36
NG_012691.1:g.4916C>T , LRG_507:g.4916C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1784G>A
Search 100 bp 5'
Search 100 bp 3'