Canonical Allele Identifier: CA2573805249
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762432T>C , CM000672.2:g.94762432T>C GRCh38
NC_000010.10:g.96522189T>C , CM000672.1:g.96522189T>C GRCh37
NC_000010.9:g.96512179T>C NCBI36
NG_008384.2:g.4727T>C
NG_008384.3:g.4752T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000464755.1:c.932-12626T>C ENSP00000483243.1:n.932-12626T>C