Linked Data
ClinVar Variation Id:
257421
dbSNP Id:
rs1654425
gnomAD v3:
19-55027612-T-C
gnomAD v4:
19-55027612-T-C
MyVariant Identifiers:
chr19:g.55027612T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55027612T>C , CM000681.2:g.55027612T>C | GRCh38 |
| NC_000019.8:g.60230792T>C | NCBI36 |
| NG_031963.2:g.15653A>G , LRG_560:g.15653A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310373.7:c.576A>G (GP6) | ENSP00000308782.3:p.Ser192= | |
| ENST00000333884.2:c.576A>G (GP6) | ENSP00000334552.2:p.Ser192= | |
| ENST00000417454.5:c.576A>G (GP6) MANE Select | ENSP00000394922.1:p.Ser192= | |
| ENST00000468239.1:c.345A>G (GP6) | ENSP00000464922.1:p.Ser115= | |
| NM_001083899.2:c.576A>G , LRG_560t3:c.576A>G (GP6) | NP_001077368.2:p.Ser192= | |
| NM_001256017.2:c.576A>G , LRG_560t2:c.576A>G (GP6) | NP_001242946.2:p.Ser192= | |
| NM_016363.5:c.576A>G , LRG_560t1:c.576A>G (GP6) MANE Select | NP_057447.5:p.Ser192= | |
| XR_001754012.2:n.313-15188T>C (GP6-AS1) | ||
| XR_001754013.2:n.306-15188T>C (GP6-AS1) |