Canonical Allele Identifier: CA2593985603
Gene:

Linked Data

gnomAD v3: 16-31090813-C-T
gnomAD v4: 16-31090813-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31090813C>T , CM000678.2:g.31090813C>T GRCh38
NC_000016.9:g.31102134C>T , CM000678.1:g.31102134C>T GRCh37
NC_000016.8:g.31009635C>T NCBI36
NG_011564.1:g.9143G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529564.1:c.283+2499G>A ENSP00000431371.1:n.283+2499G>A
ENST00000532364.1:c.173+3744G>A ENSP00000460316.1:n.173+3744G>A
ENST00000533518.5:c.407+279G>A
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