Canonical Allele Identifier: CA34407198
Gene:

Linked Data

dbSNP Id: rs527969114
gnomAD v3: 1-193121739-T-G
gnomAD v4: 1-193121739-T-G
MyVariant Identifiers: chr1:g.193090869T>G (hg19) chr1:g.193121739T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121739T>G , CM000663.2:g.193121739T>G GRCh38
NC_000001.10:g.193090869T>G , CM000663.1:g.193090869T>G GRCh37
NC_000001.9:g.191357492T>G NCBI36
NG_012691.1:g.4782T>G , LRG_507:g.4782T>G

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1918A>C
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