Canonical Allele Identifier: CA1358881706
Gene:

Linked Data

dbSNP Id: rs1575204345
gnomAD v3: 3-39263206-C-T
gnomAD v4: 3-39263206-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39263206C>T , CM000665.2:g.39263206C>T GRCh38
NC_000003.11:g.39304697C>T , CM000665.1:g.39304697C>T GRCh37
NC_000003.10:g.39279701C>T NCBI36
NG_016362.1:g.23530G>A

Transcript Alleles

HGVS Amino-acid change
XR_001740660.2:n.2723C>T