Canonical Allele Identifier: CA990137455
Gene:

Linked Data

dbSNP Id: rs2021992828
gnomAD v3: 18-49645833-C-T
gnomAD v4: 18-49645833-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49645833C>T , CM000680.2:g.49645833C>T GRCh38
NC_000018.9:g.47172203C>T , CM000680.1:g.47172203C>T GRCh37
NC_000018.8:g.45426201C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_935461.1:n.162-16201C>T
XR_001753446.1:n.898-16201C>T
Search 100 bp 5'
Search 100 bp 3'