Canonical Allele Identifier: CA527707467
Gene:

Linked Data

dbSNP Id: rs754169889
gnomAD v2: 1-193090875-C-T
gnomAD v4: 1-193121745-C-T
MyVariant Identifiers: chr1:g.193090875C>T (hg19) chr1:g.193121745C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121745C>T , CM000663.2:g.193121745C>T GRCh38
NC_000001.10:g.193090875C>T , CM000663.1:g.193090875C>T GRCh37
NC_000001.9:g.191357498C>T NCBI36
NG_012691.1:g.4788C>T , LRG_507:g.4788C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1912G>A
Search 100 bp 5'
Search 100 bp 3'