Canonical Allele Identifier: CA2602668
Gene: GP9 HGNC NCBI

Linked Data

dbSNP Id: rs761923868
ExAC: 3:128780820 C / G
gnomAD v2: 3-128780820-C-G
gnomAD v4: 3-129061977-C-G
MyVariant Identifiers: chr3:g.128780820C>G (hg19) chr3:g.129061977C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129061977C>G , CM000665.2:g.129061977C>G GRCh38
NC_000003.11:g.128780820C>G , CM000665.1:g.128780820C>G GRCh37
NC_000003.10:g.130263510C>G NCBI36
NG_008715.1:g.6176C>G , LRG_477:g.6176C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307395.5:c.238C>G MANE Select ENSP00000303942.4:p.Leu80Val
ENST00000307395.4:c.238C>G ENSP00000303942.4:p.Leu80Val
NM_000174.4:c.238C>G , LRG_477t1:c.238C>G NP_000165.1:p.Leu80Val
XM_005247374.3:c.238C>G XP_005247431.1:p.Leu80Val
XM_011512701.1:c.238C>G XP_011511003.1:p.Leu80Val
XM_011512702.1:c.238C>G XP_011511004.1:p.Leu80Val
NM_000174.5:c.238C>G MANE Select NP_000165.1:p.Leu80Val
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