Canonical Allele Identifier: CA1303185
Gene:

Linked Data

dbSNP Id: rs779432525
ExAC: 1:193090885 G / C
gnomAD v2: 1-193090885-G-C
gnomAD v3: 1-193121755-G-C
gnomAD v4: 1-193121755-G-C
MyVariant Identifiers: chr1:g.193090885G>C (hg19) chr1:g.193121755G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121755G>C , CM000663.2:g.193121755G>C GRCh38
NC_000001.10:g.193090885G>C , CM000663.1:g.193090885G>C GRCh37
NC_000001.9:g.191357508G>C NCBI36
NG_012691.1:g.4798G>C , LRG_507:g.4798G>C

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1902C>G
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