Linked Data
ClinVar Variation Id:
56310
ClinVar RCV Id:
RCV001853049
dbSNP Id:
rs386833758
gnomAD v4:
4-15580089-T-A
PubMed:
PMID:21068128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15580089T>A , CM000666.2:g.15580089T>A | GRCh38 |
| NC_000004.11:g.15581712T>A , CM000666.1:g.15581712T>A | GRCh37 |
| NC_000004.10:g.15190810T>A | NCBI36 |
| NG_013035.1:g.115224T>A , LRG_697:g.115224T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389652.11:c.3929T>A | ENSP00000374303.8:p.Val1310Asp | |
| ENST00000424120.6:c.3893T>A MANE Select | ENSP00000403465.1:p.Val1298Asp | |
| ENST00000503292.6:c.3893T>A | ENSP00000421809.1:p.Val1298Asp | |
| ENST00000506643.5:c.3746T>A | ENSP00000422931.2:p.Val1249Asp | |
| ENST00000514039.6:c.122T>A | ENSP00000488534.2:p.Val41Asp | |
| ENST00000634028.2:c.3746T>A | ENSP00000488669.2:p.Val1249Asp | |
| ENST00000650860.2:c.*1390T>A | ENSP00000498775.1:n.*1390T>A | |
| ENST00000674945.1:c.3569T>A | ENSP00000502333.1:p.Val1190Asp | |
| ENST00000675619.1:n.4725T>A | ||
| ENST00000675768.1:n.1113T>A | ||
| ENST00000676337.1:c.*899T>A | ENSP00000501728.1:n.*899T>A | |
| ENST00000680586.1:n.4552T>A | ||
| ENST00000389652.9:c.3391T>A | ||
| ENST00000424120.5:c.3893T>A | ENSP00000403465.1:p.Val1298Asp | |
| ENST00000503292.5:c.3893T>A | ENSP00000421809.1:p.Val1298Asp | |
| ENST00000506643.4:c.2221T>A | ||
| ENST00000634028.1:c.3699T>A | ENSP00000488669.1:n.3699T>A | |
| NM_001080522.2:c.3893T>A , LRG_697t1:c.3893T>A | NP_001073991.2:p.Val1298Asp | |
| XM_005248177.1:c.3893T>A | XP_005248234.1:p.Val1298Asp | |
| XM_011513869.1:c.3893T>A | XP_011512171.1:p.Val1298Asp | |
| XM_011513870.1:c.3893T>A | XP_011512172.1:p.Val1298Asp | |
| XM_011513871.1:c.3746T>A | XP_011512173.1:p.Val1249Asp | |
| XM_017008482.1:c.3746T>A | XP_016863971.1:p.Val1249Asp | |
| XR_001741296.1:n.4138T>A | ||
| NM_001378615.1:c.3893T>A MANE Select | NP_001365544.1:p.Val1298Asp | |
| NM_001378617.1:c.3746T>A | NP_001365546.1:p.Val1249Asp |