Linked Data
ClinVar Variation Id:
257424
dbSNP Id:
rs2304167
gnomAD v3:
19-55015713-C-T
gnomAD v4:
19-55015713-C-T
MyVariant Identifiers:
chr19:g.55015713C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55015713C>T , CM000681.2:g.55015713C>T | GRCh38 |
| NC_000019.8:g.60218893C>T | NCBI36 |
| NG_031963.2:g.27552G>A , LRG_560:g.27552G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310373.7:c.745G>A (GP6) | ENSP00000308782.3:p.Ala249Thr | |
| ENST00000333884.2:c.691G>A (GP6) | ENSP00000334552.2:p.Ala231Thr | |
| ENST00000417454.5:c.745G>A (GP6) MANE Select | ENSP00000394922.1:p.Ala249Thr | |
| ENST00000465648.1:n.189G>A (GP6) | ||
| NM_001083899.2:c.745G>A , LRG_560t3:c.745G>A (GP6) | NP_001077368.2:p.Ala249Thr | |
| NM_001256017.2:c.691G>A , LRG_560t2:c.691G>A (GP6) | NP_001242946.2:p.Ala231Thr | |
| NM_016363.5:c.745G>A , LRG_560t1:c.745G>A (GP6) MANE Select | NP_057447.5:p.Ala249Thr | |
| XR_001754012.2:n.312+9249C>T (GP6-AS1) | ||
| XR_001754013.2:n.305+9249C>T (GP6-AS1) |