Canonical Allele Identifier: CA1096565026
Gene:

Linked Data

dbSNP Id: rs1780348044
gnomAD v3: 6-160668493-G-T
gnomAD v4: 6-160668493-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160668493G>T , CM000668.2:g.160668493G>T GRCh38
NC_000006.11:g.161089525G>T , CM000668.1:g.161089525G>T GRCh37
NC_000006.10:g.161009515G>T NCBI36
NG_016147.1:g.2883C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452651.1:n.115-2120C>A
Search 100 bp 5'
Search 100 bp 3'