Canonical Allele Identifier: CA5744341
Gene: NPS HGNC NCBI
COSMIC:
COSM3751606 (not active)
MyVariant.info:
GRCh38 chr10:g.127552592G>C
GRCh37 chr10:g.129350856G>C
Revel Score:
ENST00000398023 (MANE Select) 0.250
gnomAD v2:
10:129350856 G / C
gnomAD v3:
10:127552592 G / C
gnomAD v4:
chr10-127552592-G-C
Joint Max Group AF 0.1388224 (NFE)
Genomes Max Group AF 0.13356675 (NFE)
Exomes Max Group AF 0.13901937 (NFE)
dbSNP:
4751440
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.127552592G>C , CM000672.2:g.127552592G>C GRCh38
NC_000010.10:g.129350856G>C , CM000672.1:g.129350856G>C GRCh37
NC_000010.9:g.129240846G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000398023.3:c.223G>C MANE Select ENSP00000381105.2:p.Val75Leu
ENST00000398023.2:c.223G>C ENSP00000381105.1:p.Val75Leu
NM_001030013.1:c.223G>C NP_001025184.1:p.Val75Leu
NM_001030013.2:c.223G>C MANE Select NP_001025184.1:p.Val75Leu
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