Canonical Allele Identifier: CA738547920
Gene:

Linked Data

dbSNP Id: rs2568958
MyVariant Identifiers: chr1:g.72765116G>C (hg19) chr1:g.72299433G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.72299433G>C , CM000663.2:g.72299433G>C GRCh38
NC_000001.10:g.72765116G>C , CM000663.1:g.72765116G>C GRCh37
NC_000001.9:g.72537704G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_947505.1:n.310+16028G>C
XR_947506.1:n.310+16028G>C
XR_947507.1:n.310+16028G>C
XR_001737670.1:n.414+16028G>C
XR_001737671.2:n.418+16028G>C
XR_947505.2:n.414+16028G>C
XR_947506.2:n.414+16028G>C
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