Canonical Allele Identifier: CA3587651
Gene: PROP1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.177995875T>C
GRCh37 chr5:g.177422876T>C
Revel Score:
ENST00000308304 (MANE Select) 0.177
gnomAD v2:
5:177422876 T / C
gnomAD v3:
5:177995875 T / C
gnomAD v4:
chr5-177995875-T-C
Joint Max Group AF 0.99848536 (NFE)
Genomes Max Group AF 0.99370263 (NFE)
Exomes Max Group AF 0.99843944 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177995875T>C , CM000667.2:g.177995875T>C GRCh38
NC_000005.9:g.177422876T>C , CM000667.1:g.177422876T>C GRCh37
NC_000005.8:g.177355482T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.59A>G MANE Select ENSP00000311290.2:p.Asn20Ser
NM_006261.5:c.59A>G MANE Select NP_006252.4:p.Asn20Ser
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