Linked Data
ClinVar Variation Id:
217607
ClinVar RCV Id:
RCV000201706
RCV000347415
RCV000286210
RCV000474430
RCV000778102
RCV001266486
RCV001542750
RCV002277554
RCV003317149
dbSNP Id:
rs201502401
ExAC:
4:15601322 A / T
gnomAD v2:
4-15601322-A-T
gnomAD v3:
4-15599699-A-T
gnomAD v4:
4-15599699-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15599699A>T , CM000666.2:g.15599699A>T | GRCh38 |
| NC_000004.11:g.15601322A>T , CM000666.1:g.15601322A>T | GRCh37 |
| NC_000004.10:g.15210420A>T | NCBI36 |
| NG_013035.1:g.134834A>T , LRG_697:g.134834A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4703A>T | ENSP00000374303.8:p.Asp1568Val | |
| ENST00000424120.6:c.4667A>T MANE Select | ENSP00000403465.1:p.Asp1556Val | |
| ENST00000503292.6:c.4667A>T | ENSP00000421809.1:p.Asp1556Val | |
| ENST00000506643.5:c.4520A>T | ENSP00000422931.2:p.Asp1507Val | |
| ENST00000514039.6:c.773A>T | ENSP00000488534.2:p.Asp258Val | |
| ENST00000634028.2:c.4461A>T | ENSP00000488669.2:n.4461A>T | |
| ENST00000650860.2:c.*2164A>T | ENSP00000498775.1:n.*2164A>T | |
| ENST00000674945.1:c.4343A>T | ENSP00000502333.1:p.Asp1448Val | |
| ENST00000680586.1:n.5326A>T | ||
| ENST00000389652.9:c.4165A>T | ||
| ENST00000424120.5:c.4667A>T | ENSP00000403465.1:p.Asp1556Val | |
| ENST00000503292.5:c.4667A>T | ENSP00000421809.1:p.Asp1556Val | |
| ENST00000506643.4:c.2936A>T | ||
| ENST00000514039.5:c.283A>T | ||
| ENST00000634028.1:c.4473A>T | ENSP00000488669.1:n.4473A>T | |
| NM_001080522.2:c.4667A>T , LRG_697t1:c.4667A>T | NP_001073991.2:p.Asp1556Val | |
| XM_005248177.1:c.4667A>T | XP_005248234.1:p.Asp1556Val | |
| XM_011513869.1:c.4685A>T | XP_011512171.1:p.Asp1562Val | |
| XM_011513870.1:c.4685A>T | XP_011512172.1:p.Asp1562Val | |
| XM_011513871.1:c.4538A>T | XP_011512173.1:p.Asp1513Val | |
| XM_017008482.1:c.4520A>T | XP_016863971.1:p.Asp1507Val | |
| NM_001378615.1:c.4667A>T MANE Select | NP_001365544.1:p.Asp1556Val | |
| NM_001378617.1:c.4520A>T | NP_001365546.1:p.Asp1507Val |