Canonical Allele Identifier: CA1216113076
Gene:

Linked Data

dbSNP Id: rs1675445734
gnomAD v4: 1-193121710-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121710C>T , CM000663.2:g.193121710C>T GRCh38
NC_000001.10:g.193090840C>T , CM000663.1:g.193090840C>T GRCh37
NC_000001.9:g.191357463C>T NCBI36
NG_012691.1:g.4753C>T , LRG_507:g.4753C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1947G>A
Search 100 bp 5'
Search 100 bp 3'