Canonical Allele Identifier: CA340731
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8103
dbSNP Id: rs121917842

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177994230C>T , CM000667.2:g.177994230C>T GRCh38
NC_000005.9:g.177421231C>T , CM000667.1:g.177421231C>T GRCh37
NC_000005.8:g.177353837C>T NCBI36
NG_015889.1:g.7013G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000308304.2:c.218G>A MANE Select ENSP00000311290.2:p.Arg73His
NM_006261.4:c.218G>A NP_006252.3:p.Arg73His
NM_006261.5:c.218G>A MANE Select NP_006252.4:p.Arg73His