Linked Data
ClinVar Variation Id:
1338522
ClinVar RCV Id:
RCV001817893
dbSNP Id:
rs758737171
gnomAD v4:
7-44145210-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145210C>A , CM000669.2:g.44145210C>A | GRCh38 |
| NC_000007.13:g.44184809C>A , CM000669.1:g.44184809C>A | GRCh37 |
| NC_000007.12:g.44151334C>A | NCBI36 |
| NG_008847.1:g.49214G>T | |
| NG_008847.2:g.57961G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1322G>T | ENSP00000379142.4:n.*1322G>T | |
| ENST00000616242.5:c.*444G>T | ENSP00000482149.2:n.*444G>T | |
| ENST00000683378.1:n.550G>T | ||
| ENST00000336642.9:c.358G>T | ENSP00000338009.5:p.Glu120Ter | |
| ENST00000345378.7:c.1327G>T | ENSP00000223366.2:p.Glu443Ter | |
| ENST00000403799.8:c.1324G>T MANE Select | ENSP00000384247.3:p.Glu442Ter | |
| ENST00000671824.1:c.1387G>T | ENSP00000500264.1:p.Glu463Ter | |
| ENST00000672743.1:n.336G>T | ||
| ENST00000673284.1:c.1324G>T | ENSP00000499852.1:p.Glu442Ter | |
| ENST00000336642.8:c.376G>T | ENSP00000338009.4:p.Glu126Ter | |
| ENST00000345378.6:c.1327G>T | ENSP00000223366.2:p.Glu443Ter | |
| ENST00000395796.7:c.1321G>T | ENSP00000379142.3:p.Glu441Ter | |
| ENST00000403799.7:c.1324G>T | ENSP00000384247.3:p.Glu442Ter | |
| ENST00000437084.1:c.1273G>T | ENSP00000402840.1:p.Glu425Ter | |
| ENST00000459642.1:n.704G>T | ||
| ENST00000616242.4:c.1321G>T | ENSP00000482149.1:p.Glu441Ter | |
| NM_000162.3:c.1324G>T | NP_000153.1:p.Glu442Ter | |
| NM_033507.1:c.1327G>T | NP_277042.1:p.Glu443Ter | |
| NM_033508.1:c.1321G>T | NP_277043.1:p.Glu441Ter | |
| NM_000162.4:c.1324G>T | NP_000153.1:p.Glu442Ter | |
| NM_001354800.1:c.1324G>T | NP_001341729.1:p.Glu442Ter | |
| NM_001354801.1:c.313G>T | NP_001341730.1:p.Glu105Ter | |
| NM_001354802.1:c.184G>T | NP_001341731.1:p.Glu62Ter | |
| NM_001354803.1:c.358G>T | NP_001341732.1:p.Glu120Ter | |
| NM_033507.2:c.1327G>T | NP_277042.1:p.Glu443Ter | |
| NM_033508.2:c.1321G>T | NP_277043.1:p.Glu441Ter | |
| XM_024446707.1:c.184G>T | XP_024302475.1:p.Glu62Ter | |
| NM_000162.5:c.1324G>T MANE Select | NP_000153.1:p.Glu442Ter | |
| NM_033507.3:c.1327G>T | NP_277042.1:p.Glu443Ter | |
| NM_033508.3:c.1321G>T | NP_277043.1:p.Glu441Ter | |
| NM_001354803.2:c.358G>T | NP_001341732.1:p.Glu120Ter |