Linked Data
ClinVar Variation Id:
2056383
ClinVar RCV Id:
RCV002938532
dbSNP Id:
rs1308301997
gnomAD v4:
19-33301911-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33301911A>G , CM000681.2:g.33301911A>G | GRCh38 |
| NC_000019.9:g.33792817A>G , CM000681.1:g.33792817A>G | GRCh37 |
| NC_000019.8:g.38484657A>G | NCBI36 |
| NG_012022.1:g.5614T>C , LRG_456:g.5614T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.504T>C MANE Select | ENSP00000427514.1:p.Asp168= | |
| ENST00000498907.2:c.504T>C | ENSP00000427514.1:p.Asp168= | |
| NM_001285829.1:c.147T>C | NP_001272758.1:p.Asp49= | |
| NM_001287424.1:c.609T>C | NP_001274353.1:p.Asp203= | |
| NM_001287435.1:c.462T>C | NP_001274364.1:p.Asp154= | |
| NM_004364.4:c.504T>C | NP_004355.2:p.Asp168= | |
| NM_001287424.2:c.609T>C | NP_001274353.1:p.Asp203= | |
| NM_004364.5:c.504T>C MANE Select | NP_004355.2:p.Asp168= | |
| NM_001285829.2:c.147T>C | NP_001272758.1:p.Asp49= | |
| NM_001287435.2:c.462T>C | NP_001274364.1:p.Asp154= |