Linked Data
ClinVar Variation Id:
300464
dbSNP Id:
rs766541944
ExAC:
10:73569629 C / T
gnomAD v2:
10-73569629-C-T
gnomAD v3:
10-71809872-C-T
gnomAD v4:
10-71809872-C-T
COSMIC:
COSM5473045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71809872C>T , CM000672.2:g.71809872C>T | GRCh38 |
| NC_000010.10:g.73569629C>T , CM000672.1:g.73569629C>T | GRCh37 |
| NC_000010.9:g.73239635C>T | NCBI36 |
| NG_008835.1:g.417926C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.8775C>T MANE Select | ENSP00000224721.9:p.Pro2925= | |
| ENST00000642965.1:c.2708C>T | ENSP00000495222.1:n.2708C>T | |
| ENST00000647092.1:c.2372C>T | ENSP00000495176.1:n.2372C>T | |
| ENST00000224721.10:c.8790C>T | ENSP00000224721.8:p.Pro2930= | |
| ENST00000398788.4:c.2055C>T | ENSP00000381768.3:p.Pro685= | |
| ENST00000475158.1:n.2311C>T | ||
| ENST00000619887.4:c.2055C>T | ENSP00000478374.1:p.Pro685= | |
| ENST00000622827.4:c.8775C>T | ENSP00000483211.1:p.Pro2925= | |
| NM_001171933.1:c.2055C>T | NP_001165404.1:p.Pro685= | |
| NM_001171934.1:c.2055C>T | NP_001165405.1:p.Pro685= | |
| NM_022124.5:c.8775C>T | NP_071407.4:p.Pro2925= | |
| XM_006717940.2:c.8970C>T | XP_006718003.1:p.Pro2990= | |
| XM_006717942.2:c.8904C>T | XP_006718005.1:p.Pro2968= | |
| XM_011540039.1:c.8967C>T | XP_011538341.1:p.Pro2989= | |
| XM_011540040.1:c.8964C>T | XP_011538342.1:p.Pro2988= | |
| XM_011540041.1:c.8910C>T | XP_011538343.1:p.Pro2970= | |
| XM_011540042.1:c.8880C>T | XP_011538344.1:p.Pro2960= | |
| XM_011540043.1:c.8970C>T | XP_011538345.1:p.Pro2990= | |
| XM_011540044.1:c.8835C>T | XP_011538346.1:p.Pro2945= | |
| XM_011540045.1:c.8970C>T | XP_011538347.1:p.Pro2990= | |
| XM_011540046.1:c.8430C>T | XP_011538348.1:p.Pro2810= | |
| XM_011540047.1:c.7788C>T | XP_011538349.1:p.Pro2596= | |
| XM_011540052.1:c.5298C>T | XP_011538354.1:p.Pro1766= | |
| NM_022124.6:c.8775C>T MANE Select | NP_071407.4:p.Pro2925= |