Canonical Allele Identifier: CA354447536
Gene: GP9 HGNC NCBI

Linked Data

dbSNP Id: rs1389937304
gnomAD v2: 3-128780802-C-G
gnomAD v3: 3-129061959-C-G
gnomAD v4: 3-129061959-C-G
MyVariant Identifiers: chr3:g.128780802C>G (hg19) chr3:g.129061959C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129061959C>G , CM000665.2:g.129061959C>G GRCh38
NC_000003.11:g.128780802C>G , CM000665.1:g.128780802C>G GRCh37
NC_000003.10:g.130263492C>G NCBI36
NG_008715.1:g.6158C>G , LRG_477:g.6158C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307395.5:c.220C>G MANE Select ENSP00000303942.4:p.Leu74Val
ENST00000307395.4:c.220C>G ENSP00000303942.4:p.Leu74Val
NM_000174.4:c.220C>G , LRG_477t1:c.220C>G NP_000165.1:p.Leu74Val
XM_005247374.3:c.220C>G XP_005247431.1:p.Leu74Val
XM_011512701.1:c.220C>G XP_011511003.1:p.Leu74Val
XM_011512702.1:c.220C>G XP_011511004.1:p.Leu74Val
NM_000174.5:c.220C>G MANE Select NP_000165.1:p.Leu74Val
Search 100 bp 5'
Search 100 bp 3'