Canonical Allele Identifier: CA1318169450
Gene:

Linked Data

dbSNP Id: rs1688119609
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.195007019T>C , CM000664.2:g.195007019T>C GRCh38
NC_000002.11:g.195871743T>C , CM000664.1:g.195871743T>C GRCh37
NC_000002.10:g.195579988T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001739836.1:n.553+52416A>G
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