Linked Data
ClinVar Variation Id:
282946
dbSNP Id:
rs372292129
ExAC:
4:15581665 A / T
gnomAD v2:
4-15581665-A-T
gnomAD v3:
4-15580042-A-T
gnomAD v4:
4-15580042-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15580042A>T , CM000666.2:g.15580042A>T | GRCh38 |
| NC_000004.11:g.15581665A>T , CM000666.1:g.15581665A>T | GRCh37 |
| NC_000004.10:g.15190763A>T | NCBI36 |
| NG_013035.1:g.115177A>T , LRG_697:g.115177A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.3882A>T | ENSP00000374303.8:p.Pro1294= | |
| ENST00000424120.6:c.3846A>T MANE Select | ENSP00000403465.1:p.Pro1282= | |
| ENST00000503292.6:c.3846A>T | ENSP00000421809.1:p.Pro1282= | |
| ENST00000506643.5:c.3699A>T | ENSP00000422931.2:p.Pro1233= | |
| ENST00000514039.6:c.75A>T | ENSP00000488534.2:p.Pro25= | |
| ENST00000634028.2:c.3699A>T | ENSP00000488669.2:p.Pro1233= | |
| ENST00000650860.2:c.*1343A>T | ENSP00000498775.1:n.*1343A>T | |
| ENST00000674945.1:c.3522A>T | ENSP00000502333.1:p.Pro1174= | |
| ENST00000675619.1:n.4678A>T | ||
| ENST00000675768.1:n.1066A>T | ||
| ENST00000676337.1:c.*852A>T | ENSP00000501728.1:n.*852A>T | |
| ENST00000680586.1:n.4505A>T | ||
| ENST00000389652.9:c.3344A>T | ||
| ENST00000424120.5:c.3846A>T | ENSP00000403465.1:p.Pro1282= | |
| ENST00000503292.5:c.3846A>T | ENSP00000421809.1:p.Pro1282= | |
| ENST00000506643.4:c.2174A>T | ||
| ENST00000634028.1:c.3652A>T | ENSP00000488669.1:n.3652A>T | |
| NM_001080522.2:c.3846A>T , LRG_697t1:c.3846A>T | NP_001073991.2:p.Pro1282= | |
| XM_005248177.1:c.3846A>T | XP_005248234.1:p.Pro1282= | |
| XM_011513869.1:c.3846A>T | XP_011512171.1:p.Pro1282= | |
| XM_011513870.1:c.3846A>T | XP_011512172.1:p.Pro1282= | |
| XM_011513871.1:c.3699A>T | XP_011512173.1:p.Pro1233= | |
| XM_017008482.1:c.3699A>T | XP_016863971.1:p.Pro1233= | |
| XR_001741296.1:n.4091A>T | ||
| NM_001378615.1:c.3846A>T MANE Select | NP_001365544.1:p.Pro1282= | |
| NM_001378617.1:c.3699A>T | NP_001365546.1:p.Pro1233= |