Canonical Allele Identifier: CA2581668330
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56385014C>G , CM000663.2:g.56385014C>G GRCh38
NC_000001.10:g.56850686C>G , CM000663.1:g.56850686C>G GRCh37
NC_000001.9:g.56623274C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000641109.1:c.759+93872G>C ENSP00000493138.1:n.759+93872G>C
ENST00000641346.1:c.366+15080G>C
ENST00000641415.1:c.192+98249G>C
ENST00000641494.1:c.378+98249G>C
ENST00000642129.1:c.768+98249G>C
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