Canonical Allele Identifier: CA1303199
Gene:

Linked Data

dbSNP Id: rs765311610
ExAC: 1:193090956 T / G
gnomAD v2: 1-193090956-T-G
gnomAD v3: 1-193121826-T-G
gnomAD v4: 1-193121826-T-G
MyVariant Identifiers: chr1:g.193090956T>G (hg19) chr1:g.193121826T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121826T>G , CM000663.2:g.193121826T>G GRCh38
NC_000001.10:g.193090956T>G , CM000663.1:g.193090956T>G GRCh37
NC_000001.9:g.191357579T>G NCBI36
NG_012691.1:g.4869T>G , LRG_507:g.4869T>G

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1831A>C
Search 100 bp 5'
Search 100 bp 3'