Canonical Allele Identifier: CA1028006334
Gene:

Linked Data

dbSNP Id: rs1673968273
gnomAD v3: 2-17843952-T-G
gnomAD v4: 2-17843952-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.17843952T>G , CM000664.2:g.17843952T>G GRCh38
NC_000002.11:g.18025219T>G , CM000664.1:g.18025219T>G GRCh37
NC_000002.10:g.17888700T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939764.2:n.447+3742A>C
Search 100 bp 5'
Search 100 bp 3'