Canonical Allele Identifier: CA1028006323
Gene:

Linked Data

dbSNP Id: rs1673966335
gnomAD v3: 2-17843907-A-T
gnomAD v4: 2-17843907-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.17843907A>T , CM000664.2:g.17843907A>T GRCh38
NC_000002.11:g.18025174A>T , CM000664.1:g.18025174A>T GRCh37
NC_000002.10:g.17888655A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939764.2:n.447+3787T>A