Canonical Allele Identifier: CA214412771
Gene:

Linked Data

dbSNP Id: rs1037860187
gnomAD v2: 10-124217499-C-G
gnomAD v3: 10-122457983-C-G
gnomAD v4: 10-122457983-C-G
MyVariant Identifiers: chr10:g.124217499C>G (hg19) chr10:g.122457983C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122457983C>G , CM000672.2:g.122457983C>G GRCh38
NC_000010.10:g.124217499C>G , CM000672.1:g.124217499C>G GRCh37
NC_000010.9:g.124207489C>G NCBI36
NG_011554.1:g.1459C>G
NG_011725.1:g.8321C>G

Transcript Alleles

HGVS Amino-acid Change
XR_946382.1:n.1827+512G>C
XR_946383.1:n.1827+512G>C
XR_946384.1:n.1576+512G>C
XR_946385.1:n.1827+512G>C
XR_946382.2:n.1855+512G>C
XR_946383.2:n.1855+512G>C
XR_946384.2:n.1580+512G>C
XR_946385.2:n.1855+512G>C
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