Linked Data
ClinVar Variation Id:
300752
ClinVar RCV Id:
RCV000337376
dbSNP Id:
rs2227566
ExAC:
10:75673731 C / T
gnomAD v2:
10-75673731-C-T
gnomAD v3:
10-73913973-C-T
gnomAD v4:
10-73913973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73913973C>T , CM000672.2:g.73913973C>T | GRCh38 |
| NC_000010.10:g.75673731C>T , CM000672.1:g.75673731C>T | GRCh37 |
| NC_000010.9:g.75343737C>T | NCBI36 |
| NG_011904.1:g.7870C>T , LRG_593:g.7870C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372764.4:c.681-7C>T (PLAU) MANE Select | ENSP00000361850.3:n.681-7C>T | |
| ENST00000372764.3:c.681-7C>T (PLAU) | ENSP00000361850.3:n.681-7C>T | |
| ENST00000409178.5:n.269-898G>A (C10orf55) | ||
| ENST00000412307.3:c.-73-898G>A (C10orf55) | ENSP00000409225.2:n.-73-898G>A | |
| ENST00000446342.5:c.630-7C>T (PLAU) | ENSP00000388474.1:n.630-7C>T | |
| NM_001001791.2:c.-73-898G>A (C10orf55) | NP_001001791.2:n.-73-898G>A | |
| NM_001145031.1:c.630-7C>T , LRG_593t2:c.630-7C>T (PLAU) | NP_001138503.1:n.630-7C>T | |
| NM_002658.3:c.681-7C>T , LRG_593t1:c.681-7C>T (PLAU) | NP_002649.1:n.681-7C>T | |
| XM_011539866.1:c.681-7C>T (PLAU) | XP_011538168.1:n.681-7C>T | |
| XM_011539867.1:c.423-7C>T (PLAU) | XP_011538169.1:n.423-7C>T | |
| NM_001145031.2:c.630-7C>T (PLAU) | NP_001138503.1:n.630-7C>T | |
| NM_001319191.1:c.423-7C>T (PLAU) | NP_001306120.1:n.423-7C>T | |
| NM_002658.4:c.681-7C>T (PLAU) | NP_002649.1:n.681-7C>T | |
| XM_011539866.2:c.681-7C>T (PLAU) | XP_011538168.1:n.681-7C>T | |
| NM_002658.5:c.681-7C>T (PLAU) | NP_002649.1:n.681-7C>T | |
| NM_001145031.3:c.630-7C>T (PLAU) | NP_001138503.2:n.630-7C>T | |
| NM_001319191.2:c.423-7C>T (PLAU) | NP_001306120.2:n.423-7C>T | |
| NM_002658.6:c.681-7C>T (PLAU) MANE Select | NP_002649.2:n.681-7C>T | |
| NR_160937.1:n.320-898G>A (C10orf55) | ||
| NR_160938.1:n.269-898G>A (C10orf55) |