Canonical Allele Identifier: CA829017224
Gene:

Linked Data

dbSNP Id: rs1267245622
gnomAD v3: 6-8525145-G-C
gnomAD v4: 6-8525145-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8525145G>C , CM000668.2:g.8525145G>C GRCh38
NC_000006.11:g.8525378G>C , CM000668.1:g.8525378G>C GRCh37
NC_000006.10:g.8470377G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_038979.1:n.626-33440G>C
NR_038980.1:n.649-33440G>C