Canonical Allele Identifier: CA8635918
Gene: GIP HGNC NCBI
COSMIC:
COSM148293 (not active)
MyVariant.info:
GRCh38 chr17:g.48961770T>C
GRCh37 chr17:g.47039132T>C
Revel Score:
ENST00000357424 (MANE Select) 0.027
gnomAD v2:
17:47039132 T / C
gnomAD v3:
17:48961770 T / C
gnomAD v4:
chr17-48961770-T-C
Joint Max Group AF 0.71021874 (EAS)
Genomes Max Group AF 0.68706215 (EAS)
Exomes Max Group AF 0.71117175 (EAS)
dbSNP:
2291725
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48961770T>C , CM000679.2:g.48961770T>C GRCh38
NC_000017.10:g.47039132T>C , CM000679.1:g.47039132T>C GRCh37
NC_000017.9:g.44394131T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357424.2:c.307A>G MANE Select ENSP00000350005.2:p.Ser103Gly
NM_004123.2:c.307A>G NP_004114.1:p.Ser103Gly
NM_004123.3:c.307A>G MANE Select NP_004114.1:p.Ser103Gly
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