Linked Data
ClinVar Variation Id:
1398831
ClinVar RCV Id:
RCV001915262
dbSNP Id:
rs2145261721
gnomAD v4:
19-33301912-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33301912T>A , CM000681.2:g.33301912T>A | GRCh38 |
| NC_000019.9:g.33792818T>A , CM000681.1:g.33792818T>A | GRCh37 |
| NC_000019.8:g.38484658T>A | NCBI36 |
| NG_012022.1:g.5613A>T , LRG_456:g.5613A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.503A>T MANE Select | ENSP00000427514.1:p.Asp168Val | |
| ENST00000498907.2:c.503A>T | ENSP00000427514.1:p.Asp168Val | |
| NM_001285829.1:c.146A>T | NP_001272758.1:p.Asp49Val | |
| NM_001287424.1:c.608A>T | NP_001274353.1:p.Asp203Val | |
| NM_001287435.1:c.461A>T | NP_001274364.1:p.Asp154Val | |
| NM_004364.4:c.503A>T | NP_004355.2:p.Asp168Val | |
| NM_001287424.2:c.608A>T | NP_001274353.1:p.Asp203Val | |
| NM_004364.5:c.503A>T MANE Select | NP_004355.2:p.Asp168Val | |
| NM_001285829.2:c.146A>T | NP_001272758.1:p.Asp49Val | |
| NM_001287435.2:c.461A>T | NP_001274364.1:p.Asp154Val |