Linked Data
ClinVar Variation Id:
4171
dbSNP Id:
rs119473033
ExAC:
2:217342939 G / T
gnomAD v2:
2-217342939-G-T
gnomAD v3:
2-216478216-G-T
gnomAD v4:
2-216478216-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216478216G>T , CM000664.2:g.216478216G>T | GRCh38 |
| NC_000002.11:g.217342939G>T , CM000664.1:g.217342939G>T | GRCh37 |
| NC_000002.10:g.217051184G>T | NCBI36 |
| NG_009771.1:g.70803G>T , LRG_108:g.70803G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.2542G>T | ENSP00000394410.2:p.Glu848Ter | |
| ENST00000430374.6:c.2542G>T | ENSP00000405077.2:p.Glu848Ter | |
| ENST00000444508.6:c.2542G>T | ENSP00000398969.2:p.Glu848Ter | |
| ENST00000697899.1:c.2308G>T | ENSP00000513470.1:p.Glu770Ter | |
| ENST00000697901.1:c.*1297G>T | ENSP00000513471.1:n.*1297G>T | |
| ENST00000697903.1:c.*1029G>T | ENSP00000513472.1:n.*1029G>T | |
| ENST00000697904.1:c.*1029G>T | ENSP00000513473.1:n.*1029G>T | |
| ENST00000697905.1:c.*1029G>T | ENSP00000513474.1:n.*1029G>T | |
| ENST00000697906.1:c.2308G>T | ENSP00000513475.1:p.Glu770Ter | |
| ENST00000697907.1:c.*1400G>T | ENSP00000513476.1:n.*1400G>T | |
| ENST00000697908.1:n.2236G>T | ||
| ENST00000697909.1:n.1434G>T | ||
| ENST00000697910.1:n.939G>T | ||
| ENST00000697911.1:n.848G>T | ||
| ENST00000357276.9:c.2542G>T MANE Select | ENSP00000349823.4:p.Glu848Ter | |
| ENST00000357276.8:c.2542G>T | ENSP00000349823.4:p.Glu848Ter | |
| ENST00000358207.9:c.2542G>T | ENSP00000350940.5:p.Glu848Ter | |
| ENST00000392128.6:c.2068G>T | ENSP00000375974.2:p.Glu690Ter | |
| NM_001127207.1:c.2542G>T | NP_001120679.1:p.Glu848Ter | |
| NM_014140.3:c.2542G>T , LRG_108t1:c.2542G>T | NP_054859.2:p.Glu848Ter | |
| XM_005246631.2:c.2542G>T | XP_005246688.1:p.Glu848Ter | |
| XM_005246632.1:c.2542G>T | XP_005246689.1:p.Glu848Ter | |
| XM_006712557.1:c.2476G>T | XP_006712620.1:p.Glu826Ter | |
| XM_005246632.2:c.2542G>T | XP_005246689.1:p.Glu848Ter | |
| XM_017004228.2:c.1630G>T | XP_016859717.1:p.Glu544Ter | |
| NM_001127207.2:c.2542G>T | NP_001120679.1:p.Glu848Ter | |
| NM_014140.4:c.2542G>T MANE Select | NP_054859.2:p.Glu848Ter |