Canonical Allele Identifier: CA2706468
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 344200
ClinVar RCV Id: RCV000404209 RCV001691981
dbSNP Id: rs2232169
ExAC: 3:172165757 G / C
gnomAD v2: 3-172165757-G-C
gnomAD v3: 3-172447967-G-C
gnomAD v4: 3-172447967-G-C
MyVariant Identifiers: chr3:g.172165757G>C (hg19) chr3:g.172447967G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447967G>C , CM000665.2:g.172447967G>C GRCh38
NC_000003.11:g.172165757G>C , CM000665.1:g.172165757G>C GRCh37
NC_000003.10:g.173648451G>C NCBI36
NG_021159.1:g.5490C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.447C>G MANE Select ENSP00000241256.2:p.Leu149=
ENST00000241256.2:c.447C>G ENSP00000241256.2:p.Leu149=
ENST00000427970.1:c.447C>G ENSP00000395344.1:p.Leu149=
NM_004122.2:c.447C>G NP_004113.1:p.Leu149=
NM_198407.2:c.447C>G MANE Select NP_940799.1:p.Leu149=
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