Canonical Allele Identifier: CA82551846
Gene: GP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 901794
ClinVar RCV Id: RCV001147897
dbSNP Id: rs182464550
gnomAD v2: 3-128780334-C-G
gnomAD v3: 3-129061491-C-G
gnomAD v4: 3-129061491-C-G
MyVariant Identifiers: chr3:g.128780334C>G (hg19) chr3:g.129061491C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129061491C>G , CM000665.2:g.129061491C>G GRCh38
NC_000003.11:g.128780334C>G , CM000665.1:g.128780334C>G GRCh37
NC_000003.10:g.130263024C>G NCBI36
NG_008715.1:g.5690C>G , LRG_477:g.5690C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307395.5:c.-138-3C>G MANE Select ENSP00000303942.4:n.-138-3C>G
ENST00000307395.4:c.-138-3C>G ENSP00000303942.4:n.-138-3C>G
NM_000174.4:c.-138-3C>G , LRG_477t1:c.-138-3C>G NP_000165.1:n.-138-3C>G
XM_005247374.3:c.-138-3C>G XP_005247431.1:n.-138-3C>G
XM_011512701.1:c.-138-3C>G XP_011511003.1:n.-138-3C>G
XM_011512702.1:c.-12-237C>G XP_011511004.1:n.-12-237C>G
NM_000174.5:c.-138-3C>G MANE Select NP_000165.1:n.-138-3C>G
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