Canonical Allele Identifier: CA2573805247
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762428C>T , CM000672.2:g.94762428C>T GRCh38
NC_000010.10:g.96522185C>T , CM000672.1:g.96522185C>T GRCh37
NC_000010.9:g.96512175C>T NCBI36
NG_008384.2:g.4723C>T
NG_008384.3:g.4748C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000464755.1:c.932-12630C>T ENSP00000483243.1:n.932-12630C>T