Canonical Allele Identifier: CA134049588
Gene:

Linked Data

dbSNP Id: rs777805394
gnomAD v3: 6-8525194-T-C
gnomAD v4: 6-8525194-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8525194T>C , CM000668.2:g.8525194T>C GRCh38
NC_000006.11:g.8525427T>C , CM000668.1:g.8525427T>C GRCh37
NC_000006.10:g.8470426T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_038979.1:n.626-33391T>C
NR_038980.1:n.649-33391T>C