Canonical Allele Identifier: CA2607131980
Gene:

Linked Data

dbSNP Id: rs2102854205
gnomAD v3: 1-213682295-C-T
gnomAD v4: 1-213682295-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.213682295C>T , CM000663.2:g.213682295C>T GRCh38
NC_000001.10:g.213855638C>T , CM000663.1:g.213855638C>T GRCh37
NC_000001.9:g.211922261C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001738463.1:n.601-49122C>T
XR_001738464.1:n.426-49122C>T
Search 100 bp 5'
Search 100 bp 3'