Canonical Allele Identifier: CA1216113079
Gene:

Linked Data

dbSNP Id: rs1001523322
gnomAD v4: 1-193121712-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121712G>C , CM000663.2:g.193121712G>C GRCh38
NC_000001.10:g.193090842G>C , CM000663.1:g.193090842G>C GRCh37
NC_000001.9:g.191357465G>C NCBI36
NG_012691.1:g.4755G>C , LRG_507:g.4755G>C

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1945C>G
Search 100 bp 5'
Search 100 bp 3'