Canonical Allele Identifier: CA13681013
Gene:

Linked Data

dbSNP Id: rs13312747
gnomAD v2: 12-4490344-C-G
gnomAD v3: 12-4381178-C-G
gnomAD v4: 12-4381178-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4381178C>G , CM000674.2:g.4381178C>G GRCh38
NC_000012.11:g.4490344C>G , CM000674.1:g.4490344C>G GRCh37
NC_000012.10:g.4360605C>G NCBI36
NG_007087.1:g.3551G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000648100.1:c.*1967+14896C>G ENSP00000497536.1:n.*1967+14896C>G
ENST00000674624.1:c.*1204+14896C>G ENSP00000501898.1:n.*1204+14896C>G