Canonical Allele Identifier: CA310850190
Gene:

Linked Data

dbSNP Id: rs1027545946
gnomAD v3: 20-2470872-T-G
gnomAD v4: 20-2470872-T-G
MyVariant Identifiers: chr20:g.2451518T>G (hg19) chr20:g.2470872T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470872T>G , CM000682.2:g.2470872T>G GRCh38
NC_000020.10:g.2451518T>G , CM000682.1:g.2451518T>G GRCh37
NC_000020.9:g.2399518T>G NCBI36
NG_042057.1:g.4982A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3114A>C ENSP00000456213.1:n.305-3114A>C
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