Canonical Allele Identifier: CA508135733
Gene:
MyVariant.info:
GRCh37 chr19:g.50223266G>C
gnomAD v4:
chr19-49720009-G-C
Joint Max Group AF 0.00001221 (NFE)
Exomes Max Group AF 0.00001295 (NFE)
dbSNP:
3810265
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49720009G>C , CM000681.2:g.49720009G>C GRCh38
NC_000019.9:g.50223266G>C , CM000681.1:g.50223266G>C GRCh37
NC_000019.8:g.54915078G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000498085.1:n.73C>G
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