Canonical Allele Identifier: CA2346122795
Gene:

Linked Data

dbSNP Id: rs890217212
gnomAD v4: 20-2470985-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470985C>T , CM000682.2:g.2470985C>T GRCh38
NC_000020.10:g.2451631C>T , CM000682.1:g.2451631C>T GRCh37
NC_000020.9:g.2399631C>T NCBI36
NG_042057.1:g.4869G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3227G>A ENSP00000456213.1:n.305-3227G>A
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