Canonical Allele Identifier: CA1929213249
Gene:

Linked Data

dbSNP Id: rs1848181167
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762426A>C , CM000672.2:g.94762426A>C GRCh38
NC_000010.10:g.96522183A>C , CM000672.1:g.96522183A>C GRCh37
NC_000010.9:g.96512173A>C NCBI36
NG_008384.2:g.4721A>C
NG_008384.3:g.4746A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000464755.1:c.932-12632A>C ENSP00000483243.1:n.932-12632A>C
Search 100 bp 5'
Search 100 bp 3'