Canonical Allele Identifier: CA742353503
Gene:

Linked Data

dbSNP Id: rs1229850109
gnomAD v3: 20-2470867-G-C
gnomAD v4: 20-2470867-G-C
MyVariant Identifiers: chr20:g.2451513G>C (hg19) chr20:g.2470867G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470867G>C , CM000682.2:g.2470867G>C GRCh38
NC_000020.10:g.2451513G>C , CM000682.1:g.2451513G>C GRCh37
NC_000020.9:g.2399513G>C NCBI36
NG_042057.1:g.4987C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3109C>G ENSP00000456213.1:n.305-3109C>G
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