Linked Data
ClinVar Variation Id:
226476
dbSNP Id:
rs201147414
ExAC:
3:53835299 C / T
gnomAD v2:
3-53835299-C-T
gnomAD v3:
3-53801272-C-T
gnomAD v4:
3-53801272-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53801272C>T , CM000665.2:g.53801272C>T | GRCh38 |
| NC_000003.11:g.53835299C>T , CM000665.1:g.53835299C>T | GRCh37 |
| NC_000003.10:g.53810339C>T | NCBI36 |
| NG_032999.1:g.311224C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481478.2:c.5315C>T | ENSP00000418014.2:p.Thr1772Ile | |
| ENST00000636633.2:n.2254C>T | ||
| ENST00000636999.2:n.690C>T | ||
| ENST00000288139.11:c.5315C>T MANE Plus Clinical | ENSP00000288139.3:p.Thr1772Ile | |
| ENST00000350061.11:c.5255C>T MANE Select | ENSP00000288133.5:p.Thr1752Ile | |
| ENST00000422281.7:c.5210C>T | ENSP00000409174.2:p.Thr1737Ile | |
| ENST00000636448.1:c.1376C>T | ||
| ENST00000636570.1:c.5210C>T | ENSP00000490183.1:p.Thr1737Ile | |
| ENST00000636629.1:n.611C>T | ||
| ENST00000636633.1:n.2254C>T | ||
| ENST00000636999.1:n.682C>T | ||
| ENST00000637424.1:c.5282C>T | ENSP00000489769.1:p.Thr1761Ile | |
| ENST00000637844.1:n.9C>T | ||
| ENST00000288139.8:c.5315C>T | ENSP00000288139.3:p.Thr1772Ile | |
| ENST00000350061.9:c.5255C>T | ENSP00000288133.5:p.Thr1752Ile | |
| ENST00000422281.6:c.5210C>T | ENSP00000409174.2:p.Thr1737Ile | |
| ENST00000481478.1:c.4334C>T | ENSP00000418014.1:p.Thr1445Ile | |
| NM_000720.3:c.5315C>T | NP_000711.1:p.Thr1772Ile | |
| NM_001128839.2:c.5210C>T | NP_001122311.1:p.Thr1737Ile | |
| NM_001128840.2:c.5255C>T | NP_001122312.1:p.Thr1752Ile | |
| XM_005265448.2:c.5210C>T | XP_005265505.1:p.Thr1737Ile | |
| XM_011534094.1:c.5510C>T | XP_011532396.1:p.Thr1837Ile | |
| XM_011534095.1:c.5399C>T | XP_011532397.1:p.Thr1800Ile | |
| XM_011534096.1:c.5321C>T | XP_011532398.1:p.Thr1774Ile | |
| XM_011534097.1:c.4973C>T | XP_011532399.1:p.Thr1658Ile | |
| XM_011534098.1:c.4973C>T | XP_011532400.1:p.Thr1658Ile | |
| XM_011534099.1:c.4598C>T | XP_011532401.1:p.Thr1533Ile | |
| XM_011534100.1:c.5405C>T | XP_011532402.1:p.Thr1802Ile | |
| XM_005265448.3:c.5210C>T | XP_005265505.1:p.Thr1737Ile | |
| XM_011534094.2:c.5510C>T | XP_011532396.1:p.Thr1837Ile | |
| XM_011534096.2:c.5321C>T | XP_011532398.1:p.Thr1774Ile | |
| XM_011534097.2:c.4973C>T | XP_011532399.1:p.Thr1658Ile | |
| XM_011534099.2:c.4598C>T | XP_011532401.1:p.Thr1533Ile | |
| XM_011534100.2:c.5405C>T | XP_011532402.1:p.Thr1802Ile | |
| XM_017007137.1:c.5510C>T | XP_016862626.1:p.Thr1837Ile | |
| XM_017007138.1:c.5507C>T | XP_016862627.1:p.Thr1836Ile | |
| XM_017007139.1:c.5510C>T | XP_016862628.1:p.Thr1837Ile | |
| XM_017007140.1:c.5450C>T | XP_016862629.1:p.Thr1817Ile | |
| XM_017007141.1:c.5450C>T | XP_016862630.1:p.Thr1817Ile | |
| XM_017007142.1:c.5426C>T | XP_016862631.1:p.Thr1809Ile | |
| XM_017007143.1:c.5426C>T | XP_016862632.1:p.Thr1809Ile | |
| XM_017007144.1:c.5426C>T | XP_016862633.1:p.Thr1809Ile | |
| XM_017007145.1:c.5381C>T | XP_016862634.1:p.Thr1794Ile | |
| NM_001128840.3:c.5255C>T MANE Select | NP_001122312.1:p.Thr1752Ile | |
| NM_000720.4:c.5315C>T MANE Plus Clinical | NP_000711.1:p.Thr1772Ile | |
| NM_001128839.3:c.5210C>T | NP_001122311.1:p.Thr1737Ile |