Linked Data
ClinVar Variation Id:
300758
dbSNP Id:
rs72816325
ExAC:
10:75675086 T / C
gnomAD v2:
10-75675086-T-C
gnomAD v3:
10-73915328-T-C
gnomAD v4:
10-73915328-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73915328T>C , CM000672.2:g.73915328T>C | GRCh38 |
| NC_000010.10:g.75675086T>C , CM000672.1:g.75675086T>C | GRCh37 |
| NC_000010.9:g.75345092T>C | NCBI36 |
| NG_011904.1:g.9225T>C , LRG_593:g.9225T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372764.4:c.1048T>C (PLAU) MANE Select | ENSP00000361850.3:p.Tyr350His | |
| ENST00000372764.3:c.1048T>C (PLAU) | ENSP00000361850.3:p.Tyr350His | |
| ENST00000409178.5:n.268+1191A>G (C10orf55) | ||
| ENST00000412307.3:c.-74+1191A>G (C10orf55) | ENSP00000409225.2:n.-74+1191A>G | |
| ENST00000446342.5:c.997T>C (PLAU) | ENSP00000388474.1:p.Tyr333His | |
| NM_001001791.2:c.-74+1191A>G (C10orf55) | NP_001001791.2:n.-74+1191A>G | |
| NM_001145031.1:c.997T>C , LRG_593t2:c.997T>C (PLAU) | NP_001138503.1:p.Tyr333His | |
| NM_002658.3:c.1048T>C , LRG_593t1:c.1048T>C (PLAU) | NP_002649.1:p.Tyr350His | |
| XM_011539866.1:c.1048T>C (PLAU) | XP_011538168.1:p.Tyr350His | |
| XM_011539867.1:c.790T>C (PLAU) | XP_011538169.1:p.Tyr264His | |
| NM_001145031.2:c.997T>C (PLAU) | NP_001138503.1:p.Tyr333His | |
| NM_001319191.1:c.790T>C (PLAU) | NP_001306120.1:p.Tyr264His | |
| NM_002658.4:c.1048T>C (PLAU) | NP_002649.1:p.Tyr350His | |
| XM_011539866.2:c.1048T>C (PLAU) | XP_011538168.1:p.Tyr350His | |
| NM_002658.5:c.1048T>C (PLAU) | NP_002649.1:p.Tyr350His | |
| NM_001145031.3:c.997T>C (PLAU) | NP_001138503.2:p.Tyr333His | |
| NM_001319191.2:c.790T>C (PLAU) | NP_001306120.2:p.Tyr264His | |
| NM_002658.6:c.1048T>C (PLAU) MANE Select | NP_002649.2:p.Tyr350His | |
| NR_160937.1:n.319+243A>G (C10orf55) | ||
| NR_160938.1:n.268+1191A>G (C10orf55) |