Canonical Allele Identifier: CA735541193
Gene:

Linked Data

dbSNP Id: rs1354571317
gnomAD v3: 1-38158400-A-C
gnomAD v4: 1-38158400-A-C
MyVariant Identifiers: chr1:g.38624072A>C (hg19) chr1:g.38158400A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.38158400A>C , CM000663.2:g.38158400A>C GRCh38
NC_000001.10:g.38624072A>C , CM000663.1:g.38624072A>C GRCh37
NC_000001.9:g.38396659A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947202.1:n.45-3293A>C
XR_947203.1:n.61+16686A>C
XR_947204.1:n.45-3293A>C
XR_947205.1:n.45-3293A>C
XR_001737984.1:n.45-3293A>C
XR_001737985.1:n.61+16686A>C
XR_001737986.1:n.45-3293A>C
XR_001737987.1:n.45-3293A>C
XR_002958294.1:n.45-3293A>C
XR_947205.2:n.45-3293A>C
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