Linked Data
ClinVar Variation Id:
474886
ClinVar RCV Id:
RCV000531461
dbSNP Id:
rs1555528796
gnomAD v4:
17-7224026-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224026C>T , CM000679.2:g.7224026C>T | GRCh38 |
| NC_000017.10:g.7127345C>T , CM000679.1:g.7127345C>T | GRCh37 |
| NC_000017.9:g.7068069C>T | NCBI36 |
| NG_007975.1:g.9193C>T | |
| NG_008391.2:g.1025G>A | |
| NG_033038.1:g.15519G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1391C>T MANE Select | ENSP00000349297.5:p.Thr464Ile | |
| ENST00000322910.9:c.*1346C>T | ENSP00000325395.5:n.*1346C>T | |
| ENST00000350303.9:c.1325C>T | ENSP00000344152.5:p.Thr442Ile | |
| ENST00000356839.9:c.1391C>T | ENSP00000349297.5:p.Thr464Ile | |
| ENST00000542255.6:c.249C>T | ||
| ENST00000543245.6:c.1460C>T | ENSP00000438689.2:p.Thr487Ile | |
| ENST00000578711.1:n.522C>T | ||
| ENST00000579425.5:n.507C>T | ||
| ENST00000579546.1:c.228C>T | ||
| ENST00000579894.5:n.102C>T | ||
| ENST00000583074.5:n.110C>T | ||
| ENST00000583850.5:n.166C>T | ||
| ENST00000583858.5:c.420C>T | ||
| ENST00000585203.6:n.582C>T | ||
| NM_000018.3:c.1391C>T | NP_000009.1:p.Thr464Ile | |
| NM_001033859.2:c.1325C>T | NP_001029031.1:p.Thr442Ile | |
| NM_001270447.1:c.1460C>T | NP_001257376.1:p.Thr487Ile | |
| NM_001270448.1:c.1163C>T | NP_001257377.1:p.Thr388Ile | |
| XM_006721516.2:c.1391C>T | XP_006721579.2:p.Thr464Ile | |
| XM_011523829.1:c.1391C>T | XP_011522131.1:p.Thr464Ile | |
| XM_011523830.1:c.1391C>T | XP_011522132.1:p.Thr464Ile | |
| XR_934021.1:n.1498C>T | ||
| XR_934022.1:n.1498C>T | ||
| XR_934023.1:n.1498C>T | ||
| XM_006721516.3:c.1391C>T | XP_006721579.2:p.Thr464Ile | |
| XM_011523829.2:c.1391C>T | XP_011522131.1:p.Thr464Ile | |
| XM_011523830.2:c.1391C>T | XP_011522132.1:p.Thr464Ile | |
| XM_024450741.1:c.1391C>T | XP_024306509.1:p.Thr464Ile | |
| XR_934021.2:n.1450C>T | ||
| XR_934022.2:n.1450C>T | ||
| XR_934023.2:n.1450C>T | ||
| NM_000018.4:c.1391C>T MANE Select | NP_000009.1:p.Thr464Ile | |
| NM_001033859.3:c.1325C>T | NP_001029031.1:p.Thr442Ile | |
| NM_001270447.2:c.1460C>T | NP_001257376.1:p.Thr487Ile | |
| NM_001270448.2:c.1163C>T | NP_001257377.1:p.Thr388Ile |