Canonical Allele Identifier: CA1096564993
Gene:

Linked Data

dbSNP Id: rs1780347345
gnomAD v3: 6-160668422-T-C
gnomAD v4: 6-160668422-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160668422T>C , CM000668.2:g.160668422T>C GRCh38
NC_000006.11:g.161089454T>C , CM000668.1:g.161089454T>C GRCh37
NC_000006.10:g.161009444T>C NCBI36
NG_016147.1:g.2954A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452651.1:n.115-2049A>G
Search 100 bp 5'
Search 100 bp 3'