Canonical Allele Identifier: CA15467501
Gene:
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NR_038979.1:n.626-33458T>C
NR_038980.1:n.649-33458T>C