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Canonical Allele Identifier:
CA14748239
Gene: RPS4XP2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.4675114C>T
GRCh37
chr20:g.4655760C>T
Linked Data - Sequence & Population
gnomAD v2:
20:4655760 C / T
gnomAD v3:
20:4675114 C / T
gnomAD v4:
chr20-4675114-C-T
Joint Max Group AF
0.64814135 (AMR)
Genomes Max Group AF
0.64814135 (AMR)
Linked Data - NCBI & NCI
dbSNP:
1029273
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.4675114C>T , CM000682.2:g.4675114C>T
GRCh38
NC_000020.10:g.4655760C>T , CM000682.1:g.4655760C>T
GRCh37
NC_000020.9:g.4603760C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000652447.1:n.87+9948G>A
Search 100 bp 5'
Search 100 bp 3'