Canonical Allele Identifier: CA2216888460
Gene:

Linked Data

dbSNP Id: rs2057282625
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31090804A>T , CM000678.2:g.31090804A>T GRCh38
NC_000016.9:g.31102125A>T , CM000678.1:g.31102125A>T GRCh37
NC_000016.8:g.31009626A>T NCBI36
NG_011564.1:g.9152T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529564.1:c.283+2508T>A ENSP00000431371.1:n.283+2508T>A
ENST00000532364.1:c.173+3753T>A ENSP00000460316.1:n.173+3753T>A
ENST00000533518.5:c.407+288T>A
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