Canonical Allele Identifier: CA2706485
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 1935969
ClinVar RCV Id: RCV002642440
dbSNP Id: rs375707863
ExAC: 3:172165844 T / C
gnomAD v2: 3-172165844-T-C
gnomAD v3: 3-172448054-T-C
gnomAD v4: 3-172448054-T-C
MyVariant Identifiers: chr3:g.172165844T>C (hg19) chr3:g.172448054T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448054T>C , CM000665.2:g.172448054T>C GRCh38
NC_000003.11:g.172165844T>C , CM000665.1:g.172165844T>C GRCh37
NC_000003.10:g.173648538T>C NCBI36
NG_021159.1:g.5403A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.360A>G MANE Select ENSP00000241256.2:p.Gln120=
ENST00000241256.2:c.360A>G ENSP00000241256.2:p.Gln120=
ENST00000427970.1:c.360A>G ENSP00000395344.1:p.Gln120=
NM_004122.2:c.360A>G NP_004113.1:p.Gln120=
NM_198407.2:c.360A>G MANE Select NP_940799.1:p.Gln120=
Search 100 bp 5'
Search 100 bp 3'