Canonical Allele Identifier: CA2649624399
Gene:

Linked Data

dbSNP Id: rs2103110954
gnomAD v4: 1-193121907-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121907C>T , CM000663.2:g.193121907C>T GRCh38
NC_000001.10:g.193091037C>T , CM000663.1:g.193091037C>T GRCh37
NC_000001.9:g.191357660C>T NCBI36
NG_012691.1:g.4950C>T , LRG_507:g.4950C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1750G>A
Search 100 bp 5'
Search 100 bp 3'