Linked Data
ClinVar Variation Id:
2256174
ClinVar RCV Id:
RCV004112685
dbSNP Id:
rs756402191
ExAC:
10:75673363 G / A
gnomAD v2:
10-75673363-G-A
gnomAD v3:
10-73913605-G-A
gnomAD v4:
10-73913605-G-A
COSMIC:
COSM1195272
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73913605G>A , CM000672.2:g.73913605G>A | GRCh38 |
| NC_000010.10:g.75673363G>A , CM000672.1:g.75673363G>A | GRCh37 |
| NC_000010.9:g.75343369G>A | NCBI36 |
| NG_011904.1:g.7502G>A , LRG_593:g.7502G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372764.4:c.527G>A (PLAU) MANE Select | ENSP00000361850.3:p.Arg176His | |
| ENST00000372764.3:c.527G>A (PLAU) | ENSP00000361850.3:p.Arg176His | |
| ENST00000409178.5:n.269-530C>T (C10orf55) | ||
| ENST00000412307.3:c.-73-530C>T (C10orf55) | ENSP00000409225.2:n.-73-530C>T | |
| ENST00000446342.5:c.476G>A (PLAU) | ENSP00000388474.1:p.Arg159His | |
| ENST00000494287.1:n.602G>A (PLAU) | ||
| NM_001001791.2:c.-73-530C>T (C10orf55) | NP_001001791.2:n.-73-530C>T | |
| NM_001145031.1:c.476G>A , LRG_593t2:c.476G>A (PLAU) | NP_001138503.1:p.Arg159His | |
| NM_002658.3:c.527G>A , LRG_593t1:c.527G>A (PLAU) | NP_002649.1:p.Arg176His | |
| XM_011539866.1:c.527G>A (PLAU) | XP_011538168.1:p.Arg176His | |
| XM_011539867.1:c.269G>A (PLAU) | XP_011538169.1:p.Arg90His | |
| NM_001145031.2:c.476G>A (PLAU) | NP_001138503.1:p.Arg159His | |
| NM_001319191.1:c.269G>A (PLAU) | NP_001306120.1:p.Arg90His | |
| NM_002658.4:c.527G>A (PLAU) | NP_002649.1:p.Arg176His | |
| XM_011539866.2:c.527G>A (PLAU) | XP_011538168.1:p.Arg176His | |
| NM_002658.5:c.527G>A (PLAU) | NP_002649.1:p.Arg176His | |
| NM_001145031.3:c.476G>A (PLAU) | NP_001138503.2:p.Arg159His | |
| NM_001319191.2:c.269G>A (PLAU) | NP_001306120.2:p.Arg90His | |
| NM_002658.6:c.527G>A (PLAU) MANE Select | NP_002649.2:p.Arg176His | |
| NR_160937.1:n.320-530C>T (C10orf55) | ||
| NR_160938.1:n.269-530C>T (C10orf55) |