Canonical Allele Identifier: CA2602662
Gene: GP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 902703
ClinVar RCV Id: RCV001149441
dbSNP Id: rs145472050

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129061942C>T , CM000665.2:g.129061942C>T GRCh38
NC_000003.11:g.128780785C>T , CM000665.1:g.128780785C>T GRCh37
NC_000003.10:g.130263475C>T NCBI36
NG_008715.1:g.6141C>T , LRG_477:g.6141C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307395.5:c.203C>T MANE Select ENSP00000303942.4:p.Pro68Leu
ENST00000307395.4:c.203C>T ENSP00000303942.4:p.Pro68Leu
NM_000174.4:c.203C>T , LRG_477t1:c.203C>T NP_000165.1:p.Pro68Leu
XM_005247374.3:c.203C>T XP_005247431.1:p.Pro68Leu
XM_011512701.1:c.203C>T XP_011511003.1:p.Pro68Leu
XM_011512702.1:c.203C>T XP_011511004.1:p.Pro68Leu
NM_000174.5:c.203C>T MANE Select NP_000165.1:p.Pro68Leu