Canonical Allele Identifier: CA340731

Gene: PROP1

Linked Data

• ClinVar Variation Id: 8103
• ClinVar RCV Id: RCV000008571 ; RCV001383203
• dbSNP Id: rs121917842
• ExAC: 5:177421231 C / T
• gnomAD v2: 5-177421231-C-T
• gnomAD v3: 5-177994230-C-T
• gnomAD v4: 5-177994230-C-T
• MyVariant Identifiers: chr5:g.177421231C>T (hg19) ; chr5:g.177994230C>T (hg38)
• PubMed: PMID:11549703

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