Canonical Allele Identifier: CA36160721
Gene:

Linked Data

dbSNP Id: rs1001031766
gnomAD v2: 1-198469197-A-G
gnomAD v3: 1-198500067-A-G
gnomAD v4: 1-198500067-A-G
MyVariant Identifiers: chr1:g.198469197A>G (hg19) chr1:g.198500067A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.198500067A>G , CM000663.2:g.198500067A>G GRCh38
NC_000001.10:g.198469197A>G , CM000663.1:g.198469197A>G GRCh37
NC_000001.9:g.196735820A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922398.1:n.679+19484T>C
XR_922398.2:n.341+19484T>C
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