Canonical Allele Identifier: CA10576170
Gene:

Linked Data

dbSNP Id: rs4149015
gnomAD v2: 12-21283322-G-A
gnomAD v3: 12-21130388-G-A
gnomAD v4: 12-21130388-G-A
MyVariant Identifiers: chr12:g.21283322G>A (hg19) chr12:g.21130388G>A (hg38)
PubMed: PMID:15226675 PMID:15864131 PMID:22992668
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21130388G>A , CM000674.2:g.21130388G>A GRCh38
NC_000012.11:g.21283322G>A , CM000674.1:g.21283322G>A GRCh37
NC_000012.10:g.21174589G>A NCBI36
NG_011745.1:g.4195G>A , LRG_1022:g.4195G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000543498.5:c.281-11126G>A
ENST00000585342.5:c.371-735G>A ENSP00000467594.1:n.371-735G>A
ENST00000590779.5:c.377-735G>A
ENST00000592513.1:c.358-735G>A
ENST00000593147.5:c.406-735G>A ENSP00000467209.1:n.406-735G>A
Search 100 bp 5'
Search 100 bp 3'