Canonical Allele Identifier: CA1189012
Gene: APCS HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.159588211T>C
GRCh37 chr1:g.159558001T>C
Revel Score:
ENST00000255040 (MANE Select) 0.451
gnomAD v2:
1:159558001 T / C
gnomAD v4:
chr1-159588211-T-C
Joint Max Group AF 0.00032406 (MID)
Exomes Max Group AF 0.0003412 (MID)
ClinVar RCV:
RCV004348116
ClinVar Variation:
2602791
dbSNP:
767855061
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159588211T>C , CM000663.2:g.159588211T>C GRCh38
NC_000001.10:g.159558001T>C , CM000663.1:g.159558001T>C GRCh37
NC_000001.9:g.157824625T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000255040.3:c.175T>C MANE Select ENSP00000255040.2:p.Tyr59His
ENST00000255040.2:c.175T>C ENSP00000255040.2:p.Tyr59His
NM_001639.3:c.175T>C NP_001630.1:p.Tyr59His
NM_001639.4:c.175T>C MANE Select NP_001630.1:p.Tyr59His
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