Canonical Allele Identifier: CA527707653
Gene:

Linked Data

dbSNP Id: rs1383696721
gnomAD v2: 1-193091005-T-C
gnomAD v3: 1-193121875-T-C
gnomAD v4: 1-193121875-T-C
MyVariant Identifiers: chr1:g.193091005T>C (hg19) chr1:g.193121875T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121875T>C , CM000663.2:g.193121875T>C GRCh38
NC_000001.10:g.193091005T>C , CM000663.1:g.193091005T>C GRCh37
NC_000001.9:g.191357628T>C NCBI36
NG_012691.1:g.4918T>C , LRG_507:g.4918T>C

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1782A>G
Search 100 bp 5'
Search 100 bp 3'