Canonical Allele Identifier: CA400127389
Gene: GIP HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.48961768A>C
GRCh37 chr17:g.47039130A>C
Revel Score:
ENST00000357424 (MANE Select) 0.052
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48961768A>C , CM000679.2:g.48961768A>C GRCh38
NC_000017.10:g.47039130A>C , CM000679.1:g.47039130A>C GRCh37
NC_000017.9:g.44394129A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357424.2:c.309T>G MANE Select ENSP00000350005.2:p.Ser103Arg
NM_004123.2:c.309T>G NP_004114.1:p.Ser103Arg
NM_004123.3:c.309T>G MANE Select NP_004114.1:p.Ser103Arg
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