Linked Data
ClinVar Variation Id:
257414
dbSNP Id:
rs10418074
gnomAD v3:
19-55014218-C-T
gnomAD v4:
19-55014218-C-T
MyVariant Identifiers:
chr19:g.55014218C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55014218C>T , CM000681.2:g.55014218C>T | GRCh38 |
| NC_000019.8:g.60217398C>T | NCBI36 |
| NG_031963.2:g.29047G>A , LRG_560:g.29047G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310373.7:c.1727G>A (GP6) | ENSP00000308782.3:p.Arg576Lys | |
| ENST00000333884.2:c.*703G>A (GP6) | ENSP00000334552.2:n.*703G>A | |
| ENST00000417454.5:c.*703G>A (GP6) MANE Select | ENSP00000394922.1:n.*703G>A | |
| NM_001083899.2:c.1727G>A , LRG_560t3:c.1727G>A (GP6) | NP_001077368.2:p.Arg576Lys | |
| NM_001256017.2:c.*703G>A , LRG_560t2:c.*703G>A (GP6) | NP_001242946.2:n.*703G>A | |
| NM_016363.5:c.*703G>A , LRG_560t1:c.*703G>A (GP6) MANE Select | NP_057447.5:n.*703G>A | |
| XR_001754012.2:n.312+7754C>T (GP6-AS1) | ||
| XR_001754013.2:n.305+7754C>T (GP6-AS1) |