Canonical Allele Identifier: CA604367414
Gene:

Linked Data

dbSNP Id: rs1283087314
gnomAD v2: 12-30113948-C-G
gnomAD v3: 12-29961015-C-G
gnomAD v4: 12-29961015-C-G
MyVariant Identifiers: chr12:g.30113948C>G (hg19) chr12:g.29961015C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.29961015C>G , CM000674.2:g.29961015C>G GRCh38
NC_000012.11:g.30113948C>G , CM000674.1:g.30113948C>G GRCh37
NC_000012.10:g.30005215C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_931473.1:n.314-17975G>C
XR_931474.1:n.314-17975G>C
XR_931475.1:n.135-17975G>C
XR_001749060.1:n.314-17975G>C
XR_001749061.1:n.314-17975G>C
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