Linked Data
ClinVar Variation Id:
522909
ClinVar RCV Id:
RCV000626104
dbSNP Id:
rs1553845300
gnomAD v4:
4-15597452-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15597452G>T , CM000666.2:g.15597452G>T | GRCh38 |
| NC_000004.11:g.15599075G>T , CM000666.1:g.15599075G>T | GRCh37 |
| NC_000004.10:g.15208173G>T | NCBI36 |
| NG_013035.1:g.132587G>T , LRG_697:g.132587G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4519G>T | ENSP00000374303.8:p.Glu1507Ter | |
| ENST00000424120.6:c.4483G>T MANE Select | ENSP00000403465.1:p.Glu1495Ter | |
| ENST00000503292.6:c.4483G>T | ENSP00000421809.1:p.Glu1495Ter | |
| ENST00000506643.5:c.4336G>T | ENSP00000422931.2:p.Glu1446Ter | |
| ENST00000513035.2:n.382G>T | ||
| ENST00000514039.6:c.589G>T | ENSP00000488534.2:p.Glu197Ter | |
| ENST00000634028.2:c.4277G>T | ENSP00000488669.2:n.4277G>T | |
| ENST00000650860.2:c.*1980G>T | ENSP00000498775.1:n.*1980G>T | |
| ENST00000674945.1:c.4159G>T | ENSP00000502333.1:p.Glu1387Ter | |
| ENST00000680586.1:n.5142G>T | ||
| ENST00000389652.9:c.3981G>T | ||
| ENST00000424120.5:c.4483G>T | ENSP00000403465.1:p.Glu1495Ter | |
| ENST00000503292.5:c.4483G>T | ENSP00000421809.1:p.Glu1495Ter | |
| ENST00000506643.4:c.2752G>T | ||
| ENST00000513035.1:n.382G>T | ||
| ENST00000514039.5:c.99G>T | ||
| ENST00000634028.1:c.4289G>T | ENSP00000488669.1:n.4289G>T | |
| NM_001080522.2:c.4483G>T , LRG_697t1:c.4483G>T | NP_001073991.2:p.Glu1495Ter | |
| XM_005248177.1:c.4483G>T | XP_005248234.1:p.Glu1495Ter | |
| XM_011513869.1:c.4501G>T | XP_011512171.1:p.Glu1501Ter | |
| XM_011513870.1:c.4501G>T | XP_011512172.1:p.Glu1501Ter | |
| XM_011513871.1:c.4354G>T | XP_011512173.1:p.Glu1452Ter | |
| XM_017008482.1:c.4336G>T | XP_016863971.1:p.Glu1446Ter | |
| NM_001378615.1:c.4483G>T MANE Select | NP_001365544.1:p.Glu1495Ter | |
| NM_001378617.1:c.4336G>T | NP_001365546.1:p.Glu1446Ter |