Linked Data
ClinVar Variation Id:
257415
dbSNP Id:
rs2886416
gnomAD v3:
19-55014140-G-A
gnomAD v4:
19-55014140-G-A
MyVariant Identifiers:
chr19:g.55014140G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55014140G>A , CM000681.2:g.55014140G>A | GRCh38 |
| NC_000019.8:g.60217320G>A | NCBI36 |
| NG_031963.2:g.29125C>T , LRG_560:g.29125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310373.7:c.1805C>T (GP6) | ENSP00000308782.3:p.Thr602Met | |
| ENST00000333884.2:c.*781C>T (GP6) | ENSP00000334552.2:n.*781C>T | |
| ENST00000417454.5:c.*781C>T (GP6) MANE Select | ENSP00000394922.1:n.*781C>T | |
| NM_001083899.2:c.1805C>T , LRG_560t3:c.1805C>T (GP6) | NP_001077368.2:p.Thr602Met | |
| NM_001256017.2:c.*781C>T , LRG_560t2:c.*781C>T (GP6) | NP_001242946.2:n.*781C>T | |
| NM_016363.5:c.*781C>T , LRG_560t1:c.*781C>T (GP6) MANE Select | NP_057447.5:n.*781C>T | |
| XR_001754012.2:n.312+7676G>A (GP6-AS1) | ||
| XR_001754013.2:n.305+7676G>A (GP6-AS1) |