Canonical Allele Identifier: CA228571763
Gene:

Linked Data

dbSNP Id: rs1010117422
MyVariant Identifiers: chr11:g.112035595C>A (hg19) chr11:g.112164872C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164872C>A , CM000673.2:g.112164872C>A GRCh38
NC_000011.9:g.112035595C>A , CM000673.1:g.112035595C>A GRCh37
NC_000011.8:g.111540805C>A NCBI36
NG_028143.1:g.4246G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000525987.5:n.320-5547C>A
ENST00000531744.5:c.315-5547C>A ENSP00000456957.1:n.315-5547C>A
ENST00000532699.1:c.315-5547C>A ENSP00000456434.1:n.315-5547C>A
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