Canonical Allele Identifier: CA24910480
Gene:

Linked Data

dbSNP Id: rs1051288013
gnomAD v2: 1-72765039-A-C
gnomAD v3: 1-72299356-A-C
gnomAD v4: 1-72299356-A-C
MyVariant Identifiers: chr1:g.72765039A>C (hg19) chr1:g.72299356A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.72299356A>C , CM000663.2:g.72299356A>C GRCh38
NC_000001.10:g.72765039A>C , CM000663.1:g.72765039A>C GRCh37
NC_000001.9:g.72537627A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947505.1:n.310+15951A>C
XR_947506.1:n.310+15951A>C
XR_947507.1:n.310+15951A>C
XR_001737670.1:n.414+15951A>C
XR_001737671.2:n.418+15951A>C
XR_947505.2:n.414+15951A>C
XR_947506.2:n.414+15951A>C
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