Linked Data
ClinVar Variation Id:
1972549
ClinVar RCV Id:
RCV002730593
gnomAD v4:
19-33302389-G-A
COSMIC:
COSM6052137
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302389G>A , CM000681.2:g.33302389G>A | GRCh38 |
| NC_000019.9:g.33793295G>A , CM000681.1:g.33793295G>A | GRCh37 |
| NC_000019.8:g.38485135G>A | NCBI36 |
| NG_012022.1:g.5136C>T , LRG_456:g.5136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.26C>T MANE Select | ENSP00000427514.1:p.Ala9Val | |
| ENST00000498907.2:c.26C>T | ENSP00000427514.1:p.Ala9Val | |
| NM_001285829.1:c.-332C>T | NP_001272758.1:n.-332C>T | |
| NM_001287424.1:c.131C>T | NP_001274353.1:p.Ala44Val | |
| NM_001287435.1:c.-17C>T | NP_001274364.1:n.-17C>T | |
| NM_004364.4:c.26C>T | NP_004355.2:p.Ala9Val | |
| NM_001287424.2:c.131C>T | NP_001274353.1:p.Ala44Val | |
| NM_004364.5:c.26C>T MANE Select | NP_004355.2:p.Ala9Val | |
| NM_001285829.2:c.-332C>T | NP_001272758.1:n.-332C>T | |
| NM_001287435.2:c.-17C>T | NP_001274364.1:n.-17C>T |