Canonical Allele Identifier: CA2824553107
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8734189G>T , CM000686.2:g.8734189G>T GRCh38
NC_000024.9:g.8602230G>T , CM000686.1:g.8602230G>T GRCh37
NC_000024.8:g.8662230G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000623558.1:c.197-5641G>T ENSP00000485446.1:n.197-5641G>T
ENST00000624237.1:c.64-7866G>T ENSP00000485137.1:n.64-7866G>T
ENST00000624593.1:c.-57+14527C>A ENSP00000485106.1:n.-57+14527C>A
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