Canonical Allele Identifier: CA760016734
Gene:

Linked Data

dbSNP Id: rs1258440212
gnomAD v3: 2-16458331-A-G
gnomAD v4: 2-16458331-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.16458331A>G , CM000664.2:g.16458331A>G GRCh38
NC_000002.11:g.16639599A>G , CM000664.1:g.16639599A>G GRCh37
NC_000002.10:g.16503080A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939752.1:n.396-3237T>C