Canonical Allele Identifier: CA2511348935
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8707785C>A , CM000686.2:g.8707785C>A GRCh38
NC_000024.9:g.8575826C>A , CM000686.1:g.8575826C>A GRCh37
NC_000024.8:g.8635826C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000623558.1:c.139+8753C>A ENSP00000485446.1:n.139+8753C>A
ENST00000624593.1:c.-57+40931G>T ENSP00000485106.1:n.-57+40931G>T
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