Canonical Allele Identifier: CA306408449
Gene:

Linked Data

dbSNP Id: rs116454810
gnomAD v2: 19-20328772-C-G
gnomAD v3: 19-20217963-C-G
gnomAD v4: 19-20217963-C-G
MyVariant Identifiers: chr19:g.20328772C>G (hg19) chr19:g.20217963C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.20217963C>G , CM000681.2:g.20217963C>G GRCh38
NC_000019.9:g.20328772C>G , CM000681.1:g.20328772C>G GRCh37
NC_000019.8:g.20189772C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_936388.1:n.619-647G>C
XR_936389.1:n.502-647G>C
XR_936390.1:n.511-647G>C
XR_936391.1:n.514-647G>C
XR_936392.1:n.514-647G>C
XR_936394.1:n.41-771C>G
XR_001754063.2:n.1506-647G>C
XR_001754064.2:n.138-647G>C
XR_001754066.1:n.3912-647G>C
XR_001754067.1:n.3912-647G>C
XR_001754068.1:n.3912-647G>C
XR_936394.2:n.41-771C>G
XR_936406.2:n.1411-647G>C
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