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Canonical Allele Identifier:
CA14998240
Gene: EPIC1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr22:g.47792504T>C
GRCh37
chr22:g.48188253T>C
Linked Data - Sequence & Population
gnomAD v2:
22:48188253 T / C
gnomAD v3:
22:47792504 T / C
gnomAD v4:
chr22-47792504-T-C
Joint Max Group AF
0.88923581 (AMR)
Genomes Max Group AF
0.88923581 (AMR)
Linked Data - NCBI & NCI
dbSNP:
5767992
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.47792504T>C , CM000684.2:g.47792504T>C
GRCh38
NC_000022.10:g.48188253T>C , CM000684.1:g.48188253T>C
GRCh37
NC_000022.9:g.46566917T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_122046.1:n.1125+53928T>C
Search 100 bp 5'
Search 100 bp 3'