Canonical Allele Identifier: CA565370268
Gene:

Linked Data

dbSNP Id: rs1475618013
gnomAD v2: 6-8525462-C-T
gnomAD v3: 6-8525229-C-T
gnomAD v4: 6-8525229-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8525229C>T , CM000668.2:g.8525229C>T GRCh38
NC_000006.11:g.8525462C>T , CM000668.1:g.8525462C>T GRCh37
NC_000006.10:g.8470461C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_038979.1:n.626-33356C>T
NR_038980.1:n.649-33356C>T