Linked Data
ClinVar Variation Id:
127923
dbSNP Id:
rs587780119
ExAC:
16:68863604 A / T
gnomAD v2:
16-68863604-A-T
gnomAD v3:
16-68829701-A-T
gnomAD v4:
16-68829701-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829701A>T , CM000678.2:g.68829701A>T | GRCh38 |
| NC_000016.9:g.68863604A>T , CM000678.1:g.68863604A>T | GRCh37 |
| NC_000016.8:g.67421105A>T | NCBI36 |
| NG_008021.1:g.97410A>T , LRG_301:g.97410A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.2343A>T MANE Select | ENSP00000261769.4:p.Glu781Asp | |
| ENST00000261769.9:c.2343A>T | ENSP00000261769.4:p.Glu781Asp | |
| ENST00000422392.6:c.2160A>T | ENSP00000414946.2:p.Glu720Asp | |
| ENST00000562118.1:n.561A>T | ||
| ENST00000562836.5:n.2414A>T | ||
| ENST00000566510.5:c.*1009A>T | ENSP00000458139.1:n.*1009A>T | |
| ENST00000566612.5:c.*583A>T | ENSP00000454782.1:n.*583A>T | |
| ENST00000611625.4:c.2406A>T | ENSP00000481063.1:p.Glu802Asp | |
| ENST00000612417.4:c.1853+3147A>T | ENSP00000478360.1:n.1853+3147A>T | |
| ENST00000621016.4:c.1866-4502A>T | ENSP00000480664.1:n.1866-4502A>T | |
| NM_004360.3:c.2343A>T , LRG_301t1:c.2343A>T | NP_004351.1:p.Glu781Asp | |
| XM_011523488.1:c.1608A>T | XP_011521790.1:p.Glu536Asp | |
| XM_011523489.1:c.1608A>T | XP_011521791.1:p.Glu536Asp | |
| NM_001317184.1:c.2160A>T | NP_001304113.1:p.Glu720Asp | |
| NM_001317185.1:c.795A>T | NP_001304114.1:p.Glu265Asp | |
| NM_001317186.1:c.378A>T | NP_001304115.1:p.Glu126Asp | |
| NM_004360.4:c.2343A>T | NP_004351.1:p.Glu781Asp | |
| NM_004360.5:c.2343A>T MANE Select | NP_004351.1:p.Glu781Asp | |
| NM_001317184.2:c.2160A>T | NP_001304113.1:p.Glu720Asp | |
| NM_001317185.2:c.795A>T | NP_001304114.1:p.Glu265Asp | |
| NM_001317186.2:c.378A>T | NP_001304115.1:p.Glu126Asp |