Canonical Allele Identifier: CA1035684385
Gene:

Linked Data

dbSNP Id: rs1678952611
gnomAD v3: 2-120551868-C-T
gnomAD v4: 2-120551868-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120551868C>T , CM000664.2:g.120551868C>T GRCh38
NC_000002.11:g.121309444C>T , CM000664.1:g.121309444C>T GRCh37
NC_000002.10:g.121025914C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_923262.1:n.1487+20G>A
XR_001739680.2:n.1495+20G>A
XR_001739681.2:n.2128+20G>A
XR_001739682.1:n.1495+20G>A
XR_002959417.1:n.1495+20G>A
Search 100 bp 5'
Search 100 bp 3'