Linked Data
ClinVar Variation Id:
347902
dbSNP Id:
rs557038070
ExAC:
4:15589471 A / C
gnomAD v2:
4-15589471-A-C
gnomAD v3:
4-15587848-A-C
gnomAD v4:
4-15587848-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15587848A>C , CM000666.2:g.15587848A>C | GRCh38 |
| NC_000004.11:g.15589471A>C , CM000666.1:g.15589471A>C | GRCh37 |
| NC_000004.10:g.15198569A>C | NCBI36 |
| NG_013035.1:g.122983A>C , LRG_697:g.122983A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4134A>C | ENSP00000374303.8:p.Glu1378Asp | |
| ENST00000424120.6:c.4098A>C MANE Select | ENSP00000403465.1:p.Glu1366Asp | |
| ENST00000503292.6:c.4098A>C | ENSP00000421809.1:p.Glu1366Asp | |
| ENST00000506643.5:c.3951A>C | ENSP00000422931.2:p.Glu1317Asp | |
| ENST00000514039.6:c.327A>C | ENSP00000488534.2:p.Glu109Asp | |
| ENST00000634028.2:c.3951A>C | ENSP00000488669.2:p.Glu1317Asp | |
| ENST00000650860.2:c.*1595A>C | ENSP00000498775.1:n.*1595A>C | |
| ENST00000674945.1:c.3774A>C | ENSP00000502333.1:p.Glu1258Asp | |
| ENST00000675768.1:n.1318A>C | ||
| ENST00000680586.1:n.4757A>C | ||
| ENST00000389652.9:c.3596A>C | ||
| ENST00000424120.5:c.4098A>C | ENSP00000403465.1:p.Glu1366Asp | |
| ENST00000503292.5:c.4098A>C | ENSP00000421809.1:p.Glu1366Asp | |
| ENST00000506643.4:c.2426A>C | ||
| ENST00000634028.1:c.3904A>C | ENSP00000488669.1:n.3904A>C | |
| NM_001080522.2:c.4098A>C , LRG_697t1:c.4098A>C | NP_001073991.2:p.Glu1366Asp | |
| XM_005248177.1:c.4098A>C | XP_005248234.1:p.Glu1366Asp | |
| XM_011513869.1:c.4116A>C | XP_011512171.1:p.Glu1372Asp | |
| XM_011513870.1:c.4116A>C | XP_011512172.1:p.Glu1372Asp | |
| XM_011513871.1:c.3969A>C | XP_011512173.1:p.Glu1323Asp | |
| XM_017008482.1:c.3951A>C | XP_016863971.1:p.Glu1317Asp | |
| NM_001378615.1:c.4098A>C MANE Select | NP_001365544.1:p.Glu1366Asp | |
| NM_001378617.1:c.3951A>C | NP_001365546.1:p.Glu1317Asp |