Canonical Allele Identifier: CA829017286
Gene:

Linked Data

dbSNP Id: rs1480244985
gnomAD v3: 6-8525263-T-C
gnomAD v4: 6-8525263-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8525263T>C , CM000668.2:g.8525263T>C GRCh38
NC_000006.11:g.8525496T>C , CM000668.1:g.8525496T>C GRCh37
NC_000006.10:g.8470495T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_038979.1:n.626-33322T>C
NR_038980.1:n.649-33322T>C