Canonical Allele Identifier: CA119790
Gene: GHR HGNC NCBI

Linked Data

ClinVar Variation Id: 8632
ClinVar RCV Id: RCV000009164
dbSNP Id: rs121909357
MyVariant Identifiers: chr5:g.42695093T>C (hg19) chr5:g.42694991T>C (hg38)
PubMed: PMID:1719554 PMID:2779634 PMID:8450064
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.42694991T>C , CM000667.2:g.42694991T>C GRCh38
NC_000005.9:g.42695093T>C , CM000667.1:g.42695093T>C GRCh37
NC_000005.8:g.42730850T>C NCBI36
NG_011688.1:g.276068T>C
NG_011688.2:g.276068T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000230882.9:c.341T>C MANE Select ENSP00000230882.4:p.Phe114Ser
ENST00000230882.8:c.341T>C ENSP00000230882.4:p.Phe114Ser
ENST00000357703.6:c.275T>C ENSP00000350335.3:p.Phe92Ser
ENST00000511135.5:c.211T>C ENSP00000422333.1:p.Leu71=
ENST00000537449.5:c.341T>C ENSP00000442206.2:p.Phe114Ser
ENST00000612382.4:c.341T>C ENSP00000478332.1:p.Phe114Ser
ENST00000612626.4:c.341T>C ENSP00000479846.1:p.Phe114Ser
ENST00000615111.4:c.341T>C ENSP00000478291.1:p.Phe114Ser
ENST00000618088.4:c.341T>C ENSP00000482373.1:p.Phe114Ser
ENST00000620156.4:c.362T>C ENSP00000483403.1:p.Phe121Ser
ENST00000622294.2:c.341T>C ENSP00000483926.1:p.Phe114Ser
NM_000163.4:c.341T>C NP_000154.1:p.Phe114Ser
NM_001242399.2:c.362T>C NP_001229328.1:p.Phe121Ser
NM_001242400.2:c.341T>C NP_001229329.1:p.Phe114Ser
NM_001242401.3:c.341T>C NP_001229330.1:p.Phe114Ser
NM_001242402.2:c.341T>C NP_001229331.1:p.Phe114Ser
NM_001242403.2:c.341T>C NP_001229332.1:p.Phe114Ser
NM_001242404.2:c.341T>C NP_001229333.1:p.Phe114Ser
NM_001242405.2:c.341T>C NP_001229334.1:p.Phe114Ser
NM_001242406.2:c.341T>C NP_001229335.1:p.Phe114Ser
NM_001242460.1:c.275T>C NP_001229389.1:p.Phe92Ser
NM_001242462.1:c.341T>C NP_001229391.1:p.Phe114Ser
XM_011514031.1:c.296T>C XP_011512333.1:p.Phe99Ser
NM_000163.5:c.341T>C MANE Select NP_000154.1:p.Phe114Ser
NM_001242401.4:c.341T>C NP_001229330.1:p.Phe114Ser
NM_001242403.3:c.341T>C NP_001229332.1:p.Phe114Ser
Search 100 bp 5'
Search 100 bp 3'