Canonical Allele Identifier: CA407479260
Gene: GP6 HGNC NCBI
GP6-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2266922
ClinVar RCV Id: RCV002803706
dbSNP Id: rs1271005331
gnomAD v3: 19-55015722-T-C
gnomAD v4: 19-55015722-T-C
MyVariant Identifiers: chr19:g.55015722T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55015722T>C , CM000681.2:g.55015722T>C GRCh38
NC_000019.8:g.60218902T>C NCBI36
NG_031963.2:g.27543A>G , LRG_560:g.27543A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000310373.7:c.736A>G (GP6) ENSP00000308782.3:p.Ser246Gly
ENST00000333884.2:c.682A>G (GP6) ENSP00000334552.2:p.Ser228Gly
ENST00000417454.5:c.736A>G (GP6) MANE Select ENSP00000394922.1:p.Ser246Gly
ENST00000465648.1:n.180A>G (GP6)
NM_001083899.2:c.736A>G , LRG_560t3:c.736A>G (GP6) NP_001077368.2:p.Ser246Gly
NM_001256017.2:c.682A>G , LRG_560t2:c.682A>G (GP6) NP_001242946.2:p.Ser228Gly
NM_016363.5:c.736A>G , LRG_560t1:c.736A>G (GP6) MANE Select NP_057447.5:p.Ser246Gly
XR_001754012.2:n.312+9258T>C (GP6-AS1)
XR_001754013.2:n.305+9258T>C (GP6-AS1)
Search 100 bp 5'
Search 100 bp 3'