Canonical Allele Identifier: CA2598122998
Gene:

Linked Data

dbSNP Id: rs2103801348
gnomAD v3: 2-52722363-C-G
gnomAD v4: 2-52722363-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.52722363C>G , CM000664.2:g.52722363C>G GRCh38
NC_000002.11:g.52949501C>G , CM000664.1:g.52949501C>G GRCh37
NC_000002.10:g.52803005C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959384.1:n.894G>C