Canonical Allele Identifier: CA1303206
Gene:

Linked Data

dbSNP Id: rs778014227
ExAC: 1:193090984 T / G
gnomAD v2: 1-193090984-T-G
gnomAD v4: 1-193121854-T-G
MyVariant Identifiers: chr1:g.193090984T>G (hg19) chr1:g.193121854T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121854T>G , CM000663.2:g.193121854T>G GRCh38
NC_000001.10:g.193090984T>G , CM000663.1:g.193090984T>G GRCh37
NC_000001.9:g.191357607T>G NCBI36
NG_012691.1:g.4897T>G , LRG_507:g.4897T>G

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1803A>C
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