Linked Data
ClinVar Variation Id:
3214306
ClinVar RCV Id:
RCV004511678
dbSNP Id:
rs148650588
ExAC:
10:75676286 G / A
gnomAD v2:
10-75676286-G-A
gnomAD v3:
10-73916528-G-A
gnomAD v4:
10-73916528-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73916528G>A , CM000672.2:g.73916528G>A | GRCh38 |
| NC_000010.10:g.75676286G>A , CM000672.1:g.75676286G>A | GRCh37 |
| NC_000010.9:g.75346292G>A | NCBI36 |
| NG_011904.1:g.10425G>A , LRG_593:g.10425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372764.4:c.1259G>A (PLAU) MANE Select | ENSP00000361850.3:p.Arg420His | |
| ENST00000372764.3:c.1259G>A (PLAU) | ENSP00000361850.3:p.Arg420His | |
| ENST00000409178.5:n.259C>T (C10orf55) | ||
| ENST00000412307.3:c.-83C>T (C10orf55) | ENSP00000409225.2:n.-83C>T | |
| ENST00000446342.5:c.1208G>A (PLAU) | ENSP00000388474.1:p.Arg403His | |
| NM_001001791.2:c.-83C>T (C10orf55) | NP_001001791.2:n.-83C>T | |
| NM_001145031.1:c.1208G>A , LRG_593t2:c.1208G>A (PLAU) | NP_001138503.1:p.Arg403His | |
| NM_002658.3:c.1259G>A , LRG_593t1:c.1259G>A (PLAU) | NP_002649.1:p.Arg420His | |
| XM_011539866.1:c.1259G>A (PLAU) | XP_011538168.1:p.Arg420His | |
| XM_011539867.1:c.1001G>A (PLAU) | XP_011538169.1:p.Arg334His | |
| NM_001145031.2:c.1208G>A (PLAU) | NP_001138503.1:p.Arg403His | |
| NM_001319191.1:c.1001G>A (PLAU) | NP_001306120.1:p.Arg334His | |
| NM_002658.4:c.1259G>A (PLAU) | NP_002649.1:p.Arg420His | |
| XM_011539866.2:c.1259G>A (PLAU) | XP_011538168.1:p.Arg420His | |
| NM_002658.5:c.1259G>A (PLAU) | NP_002649.1:p.Arg420His | |
| NM_001145031.3:c.1208G>A (PLAU) | NP_001138503.2:p.Arg403His | |
| NM_001319191.2:c.1001G>A (PLAU) | NP_001306120.2:p.Arg334His | |
| NM_002658.6:c.1259G>A (PLAU) MANE Select | NP_002649.2:p.Arg420His | |
| NR_160937.1:n.259C>T (C10orf55) | ||
| NR_160938.1:n.259C>T (C10orf55) |