Canonical Allele Identifier: CA2470007429
Gene:

Linked Data

dbSNP Id: rs1603121252
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8707840G>T , CM000686.2:g.8707840G>T GRCh38
NC_000024.9:g.8575881G>T , CM000686.1:g.8575881G>T GRCh37
NC_000024.8:g.8635881G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000623558.1:c.139+8808G>T ENSP00000485446.1:n.139+8808G>T
ENST00000624593.1:c.-57+40876C>A ENSP00000485106.1:n.-57+40876C>A
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