Canonical Allele Identifier: CA10602359
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94761900C>T , CM000672.2:g.94761900C>T GRCh38
NC_000010.10:g.96521657C>T , CM000672.1:g.96521657C>T GRCh37
NC_000010.9:g.96511647C>T NCBI36
NG_008384.2:g.4195C>T
NG_008384.3:g.4220C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000464755.1:c.932-13158C>T ENSP00000483243.1:n.932-13158C>T