Canonical Allele Identifier: CA39224816
Gene:

Linked Data

dbSNP Id: rs16849553
gnomAD v2: 1-229336846-T-C
gnomAD v3: 1-229201099-T-C
gnomAD v4: 1-229201099-T-C
MyVariant Identifiers: chr1:g.229336846T>C (hg19) chr1:g.229201099T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229201099T>C , CM000663.2:g.229201099T>C GRCh38
NC_000001.10:g.229336846T>C , CM000663.1:g.229336846T>C GRCh37
NC_000001.9:g.227403469T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002958475.1:n.640-3295A>G
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