Canonical Allele Identifier: CA2649624324
Gene:

Linked Data

gnomAD v4: 1-193121839-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121839C>A , CM000663.2:g.193121839C>A GRCh38
NC_000001.10:g.193090969C>A , CM000663.1:g.193090969C>A GRCh37
NC_000001.9:g.191357592C>A NCBI36
NG_012691.1:g.4882C>A , LRG_507:g.4882C>A

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1818G>T
Search 100 bp 5'
Search 100 bp 3'