Canonical Allele Identifier: CA847118770
Gene:

Linked Data

dbSNP Id: rs1438104613
MyVariant Identifiers: chr8:g.128024838G>C (hg19) chr8:g.127012593G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127012593G>C , CM000670.2:g.127012593G>C GRCh38
NC_000008.10:g.128024838G>C , CM000670.1:g.128024838G>C GRCh37
NC_000008.9:g.128094020G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001746076.2:n.1364+5975G>C
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