Linked Data
ClinVar Variation Id:
1989210
ClinVar RCV Id:
RCV002786394
dbSNP Id:
rs904987627
gnomAD v3:
9-12704641-T-A
gnomAD v4:
9-12704641-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12704641T>A , CM000671.2:g.12704641T>A | GRCh38 |
| NC_000009.11:g.12704641T>A , CM000671.1:g.12704641T>A | GRCh37 |
| NC_000009.10:g.12694641T>A | NCBI36 |
| NG_011705.1:g.16256T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1197T>A (TYRP1) MANE Select | ENSP00000373570.4:p.Ile399= | |
| ENST00000381136.2:c.327T>A (TYRP1) | ENSP00000370528.2:p.Ile109= | |
| ENST00000381142.3:n.434T>A (TYRP1) | ||
| ENST00000388918.9:c.1197T>A (TYRP1) | ENSP00000373570.4:p.Ile399= | |
| NM_000550.2:c.1197T>A (TYRP1) | NP_000541.1:p.Ile399= | |
| NR_125775.1:n.317-4015A>T (LURAP1L-AS1) | ||
| XR_001746372.2:n.1181T>A (TYRP1) | ||
| NM_000550.3:c.1197T>A (TYRP1) MANE Select | NP_000541.1:p.Ile399= |