Canonical Allele Identifier: CA565370267
Gene:

Linked Data

dbSNP Id: rs1410766
gnomAD v2: 6-8525360-T-G
gnomAD v3: 6-8525127-T-G
gnomAD v4: 6-8525127-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8525127T>G , CM000668.2:g.8525127T>G GRCh38
NC_000006.11:g.8525360T>G , CM000668.1:g.8525360T>G GRCh37
NC_000006.10:g.8470359T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_038979.1:n.626-33458T>G
NR_038980.1:n.649-33458T>G