Canonical Allele Identifier: CA522152677
Gene:

Linked Data

dbSNP Id: rs1249034774
gnomAD v2: 1-38624317-T-C
gnomAD v3: 1-38158645-T-C
gnomAD v4: 1-38158645-T-C
MyVariant Identifiers: chr1:g.38624317T>C (hg19) chr1:g.38158645T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.38158645T>C , CM000663.2:g.38158645T>C GRCh38
NC_000001.10:g.38624317T>C , CM000663.1:g.38624317T>C GRCh37
NC_000001.9:g.38396904T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947202.1:n.45-3048T>C
XR_947203.1:n.61+16931T>C
XR_947204.1:n.45-3048T>C
XR_947205.1:n.45-3048T>C
XR_001737984.1:n.45-3048T>C
XR_001737985.1:n.61+16931T>C
XR_001737986.1:n.45-3048T>C
XR_001737987.1:n.45-3048T>C
XR_002958294.1:n.45-3048T>C
XR_947205.2:n.45-3048T>C
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