Linked Data
ClinVar Variation Id:
218374
ClinVar RCV Id:
RCV000202608
dbSNP Id:
rs864309531
gnomAD v4:
2-216423668-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216423668G>T , CM000664.2:g.216423668G>T | GRCh38 |
| NC_000002.11:g.217288391G>T , CM000664.1:g.217288391G>T | GRCh37 |
| NC_000002.10:g.216996636G>T | NCBI36 |
| NG_009771.1:g.16255G>T , LRG_108:g.16255G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.1132G>T | ENSP00000394410.2:p.Glu378Ter | |
| ENST00000430374.6:c.1132G>T | ENSP00000405077.2:p.Glu378Ter | |
| ENST00000444508.6:c.1132G>T | ENSP00000398969.2:p.Glu378Ter | |
| ENST00000697898.1:n.1493G>T | ||
| ENST00000697899.1:c.898G>T | ENSP00000513470.1:p.Glu300Ter | |
| ENST00000697900.1:n.1408G>T | ||
| ENST00000697901.1:c.1136G>T | ENSP00000513471.1:p.Arg379Ile | |
| ENST00000697902.1:n.1364G>T | ||
| ENST00000697903.1:c.1132G>T | ENSP00000513472.1:p.Glu378Ter | |
| ENST00000697904.1:c.1132G>T | ENSP00000513473.1:p.Glu378Ter | |
| ENST00000697905.1:c.1132G>T | ENSP00000513474.1:p.Glu378Ter | |
| ENST00000697906.1:c.898G>T | ENSP00000513475.1:p.Glu300Ter | |
| ENST00000697907.1:c.1136G>T | ENSP00000513476.1:p.Arg379Ile | |
| ENST00000357276.9:c.1132G>T MANE Select | ENSP00000349823.4:p.Glu378Ter | |
| ENST00000357276.8:c.1132G>T | ENSP00000349823.4:p.Glu378Ter | |
| ENST00000358207.9:c.1132G>T | ENSP00000350940.5:p.Glu378Ter | |
| ENST00000392128.6:c.724G>T | ENSP00000375974.2:p.Glu242Ter | |
| ENST00000412913.1:c.292G>T | ENSP00000390248.1:p.Glu98Ter | |
| ENST00000427645.5:c.793+3136G>T | ENSP00000392997.1:n.793+3136G>T | |
| NM_001127207.1:c.1132G>T | NP_001120679.1:p.Glu378Ter | |
| NM_014140.3:c.1132G>T , LRG_108t1:c.1132G>T | NP_054859.2:p.Glu378Ter | |
| XM_005246631.2:c.1132G>T | XP_005246688.1:p.Glu378Ter | |
| XM_005246632.1:c.1132G>T | XP_005246689.1:p.Glu378Ter | |
| XM_006712557.1:c.1132G>T | XP_006712620.1:p.Glu378Ter | |
| XM_005246632.2:c.1132G>T | XP_005246689.1:p.Glu378Ter | |
| XM_017004228.2:c.220G>T | XP_016859717.1:p.Glu74Ter | |
| NM_001127207.2:c.1132G>T | NP_001120679.1:p.Glu378Ter | |
| NM_014140.4:c.1132G>T MANE Select | NP_054859.2:p.Glu378Ter |