Canonical Allele Identifier: CA15073962
Gene:

Linked Data

dbSNP Id: rs2568958
gnomAD v2: 1-72765116-G-A
gnomAD v3: 1-72299433-G-A
gnomAD v4: 1-72299433-G-A
MyVariant Identifiers: chr1:g.72765116G>A (hg19) chr1:g.72299433G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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