Canonical Allele Identifier: CA154890416
Gene:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.17957989T>C , CM000669.2:g.17957989T>C GRCh38
NC_000007.13:g.17997612T>C , CM000669.1:g.17997612T>C GRCh37
NC_000007.12:g.17964137T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927078.1:n.271-681T>C