Canonical Allele Identifier: CA604367413
Gene:

Linked Data

dbSNP Id: rs1430884536
gnomAD v2: 12-30113947-A-G
gnomAD v3: 12-29961014-A-G
gnomAD v4: 12-29961014-A-G
MyVariant Identifiers: chr12:g.30113947A>G (hg19) chr12:g.29961014A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.29961014A>G , CM000674.2:g.29961014A>G GRCh38
NC_000012.11:g.30113947A>G , CM000674.1:g.30113947A>G GRCh37
NC_000012.10:g.30005214A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_931473.1:n.314-17974T>C
XR_931474.1:n.314-17974T>C
XR_931475.1:n.135-17974T>C
XR_001749060.1:n.314-17974T>C
XR_001749061.1:n.314-17974T>C
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