Canonical Allele Identifier: CA1096565008
Gene:

Linked Data

dbSNP Id: rs116252530
gnomAD v3: 6-160668476-C-A
gnomAD v4: 6-160668476-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160668476C>A , CM000668.2:g.160668476C>A GRCh38
NC_000006.11:g.161089508C>A , CM000668.1:g.161089508C>A GRCh37
NC_000006.10:g.161009498C>A NCBI36
NG_016147.1:g.2900G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452651.1:n.115-2103G>T
Search 100 bp 5'
Search 100 bp 3'