Canonical Allele Identifier: CA829017304
Gene:

Linked Data

dbSNP Id: rs1452615589
gnomAD v2: 6-8525504-C-T
gnomAD v3: 6-8525271-C-T
gnomAD v4: 6-8525271-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8525271C>T , CM000668.2:g.8525271C>T GRCh38
NC_000006.11:g.8525504C>T , CM000668.1:g.8525504C>T GRCh37
NC_000006.10:g.8470503C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_038979.1:n.626-33314C>T
NR_038980.1:n.649-33314C>T