Canonical Allele Identifier: CA2602716

Gene: GP9

Linked Data

• ClinVar Variation Id: 721252
• ClinVar RCV Id: RCV001145153 ; RCV000894728
• dbSNP Id: rs144345517
• ExAC: 3:128781027 T / C
• gnomAD v2: 3-128781027-T-C
• gnomAD v3: 3-129062184-T-C
• gnomAD v4: 3-129062184-T-C
• MyVariant Identifiers: chr3:g.128781027T>C (hg19) ; chr3:g.129062184T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129062184T>C , CM000665.2:g.129062184T>C	GRCh38
NC_000003.11:g.128781027T>C , CM000665.1:g.128781027T>C	GRCh37
NC_000003.10:g.130263717T>C	NCBI36
NG_008715.1:g.6383T>C , LRG_477:g.6383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307395.5:c.445T>C MANE Select	ENSP00000303942.4:p.Leu149=
ENST00000307395.4:c.445T>C	ENSP00000303942.4:p.Leu149=
NM_000174.4:c.445T>C , LRG_477t1:c.445T>C	NP_000165.1:p.Leu149=
XM_005247374.3:c.445T>C	XP_005247431.1:p.Leu149=
XM_011512701.1:c.445T>C	XP_011511003.1:p.Leu149=
XM_011512702.1:c.445T>C	XP_011511004.1:p.Leu149=
NM_000174.5:c.445T>C MANE Select	NP_000165.1:p.Leu149=