Canonical Allele Identifier: CA1096564981
Gene:

Linked Data

dbSNP Id: rs1780347126
gnomAD v3: 6-160668388-C-T
gnomAD v4: 6-160668388-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160668388C>T , CM000668.2:g.160668388C>T GRCh38
NC_000006.11:g.161089420C>T , CM000668.1:g.161089420C>T GRCh37
NC_000006.10:g.161009410C>T NCBI36
NG_016147.1:g.2988G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452651.1:n.115-2015G>A
Search 100 bp 5'
Search 100 bp 3'