Canonical Allele Identifier: CA235071417
Gene:

Linked Data

dbSNP Id: rs924788654
gnomAD v3: 12-29961049-G-C
gnomAD v4: 12-29961049-G-C
MyVariant Identifiers: chr12:g.30113982G>C (hg19) chr12:g.29961049G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.29961049G>C , CM000674.2:g.29961049G>C GRCh38
NC_000012.11:g.30113982G>C , CM000674.1:g.30113982G>C GRCh37
NC_000012.10:g.30005249G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_931473.1:n.314-18009C>G
XR_931474.1:n.314-18009C>G
XR_931475.1:n.135-18009C>G
XR_001749060.1:n.314-18009C>G
XR_001749061.1:n.314-18009C>G
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