Linked Data
ClinVar Variation Id:
314803
dbSNP Id:
rs376411291
ExAC:
14:89341439 A / G
gnomAD v2:
14-89341439-A-G
gnomAD v3:
14-88875095-A-G
gnomAD v4:
14-88875095-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88875095A>G , CM000676.2:g.88875095A>G | GRCh38 |
| NC_000014.8:g.89341439A>G , CM000676.1:g.89341439A>G | GRCh37 |
| NC_000014.7:g.88411192A>G | NCBI36 |
| NG_008126.1:g.55462A>G | |
| NG_008126.2:g.55943A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380656.7:c.1417A>G MANE Select | ENSP00000370031.2:p.Thr473Ala | |
| ENST00000557580.3:c.782A>G | ENSP00000451955.2:n.782A>G | |
| ENST00000338104.10:c.1465A>G | ENSP00000337653.6:p.Thr489Ala | |
| ENST00000345383.9:c.1417A>G | ENSP00000339486.6:p.Thr473Ala | |
| ENST00000346301.8:c.1297A>G | ENSP00000298324.6:p.Thr433Ala | |
| ENST00000354441.10:c.622A>G | ENSP00000346427.6:p.Thr208Ala | |
| ENST00000358622.9:c.823A>G | ENSP00000351439.5:p.Thr275Ala | |
| ENST00000380656.6:c.1417A>G | ENSP00000370031.2:p.Thr473Ala | |
| ENST00000536576.5:c.1297A>G | ENSP00000445067.2:p.Thr433Ala | |
| ENST00000554686.5:c.1197-2199A>G | ||
| ENST00000555057.5:c.*824A>G | ENSP00000450951.1:n.*824A>G | |
| ENST00000557580.2:c.782A>G | ||
| ENST00000614125.4:c.1465A>G | ENSP00000482306.1:p.Thr489Ala | |
| ENST00000622513.4:c.1387A>G | ENSP00000482721.1:p.Thr463Ala | |
| NM_001288781.1:c.1465A>G | NP_001275710.1:p.Thr489Ala | |
| NM_001288782.1:c.823A>G | NP_001275711.1:p.Thr275Ala | |
| NM_001288783.1:c.700A>G | NP_001275712.1:p.Thr234Ala | |
| NM_144596.3:c.1417A>G | NP_653197.2:p.Thr473Ala | |
| NM_198309.3:c.1387A>G | NP_938051.1:p.Thr463Ala | |
| NM_198310.3:c.1297A>G | NP_938052.1:p.Thr433Ala | |
| XM_006720035.1:c.1387A>G | XP_006720098.1:p.Thr463Ala | |
| XM_006720037.2:c.1297A>G | XP_006720100.1:p.Thr433Ala | |
| XM_011536432.1:c.1465A>G | XP_011534734.1:p.Thr489Ala | |
| XM_011536433.1:c.1396-2199A>G | XP_011534735.1:n.1396-2199A>G | |
| XM_011536434.1:c.1375A>G | XP_011534736.1:p.Thr459Ala | |
| XM_011536435.1:c.700A>G | XP_011534737.1:p.Thr234Ala | |
| NM_001366535.1:c.1318-2199A>G | NP_001353464.1:n.1318-2199A>G | |
| NM_001366536.1:c.1228-2199A>G | NP_001353465.1:n.1228-2199A>G | |
| NR_159362.1:n.1504A>G | ||
| XM_011536433.2:c.1396-2199A>G | XP_011534735.1:n.1396-2199A>G | |
| XM_011536434.2:c.1375A>G | XP_011534736.1:p.Thr459Ala | |
| XM_024449477.1:c.700A>G | XP_024305245.1:p.Thr234Ala | |
| NM_001366535.2:c.1318-2199A>G | NP_001353464.1:n.1318-2199A>G | |
| NM_001366536.2:c.1228-2199A>G | NP_001353465.1:n.1228-2199A>G | |
| NR_159362.2:n.1504A>G | ||
| NM_144596.4:c.1417A>G MANE Select | NP_653197.2:p.Thr473Ala |