Linked Data
ClinVar Variation Id:
2775984
ClinVar RCV Id:
RCV003662883
dbSNP Id:
rs1818228172
MyVariant Identifiers:
chr9:g.12704587T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12704587T>C , CM000671.2:g.12704587T>C | GRCh38 |
| NC_000009.11:g.12704587T>C , CM000671.1:g.12704587T>C | GRCh37 |
| NC_000009.10:g.12694587T>C | NCBI36 |
| NG_011705.1:g.16202T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1143T>C (TYRP1) MANE Select | ENSP00000373570.4:p.His381= | |
| ENST00000381136.2:c.273T>C (TYRP1) | ENSP00000370528.2:p.His91= | |
| ENST00000381142.3:n.380T>C (TYRP1) | ||
| ENST00000388918.9:c.1143T>C (TYRP1) | ENSP00000373570.4:p.His381= | |
| NM_000550.2:c.1143T>C (TYRP1) | NP_000541.1:p.His381= | |
| NR_125775.1:n.317-3961A>G (LURAP1L-AS1) | ||
| XR_001746372.2:n.1127T>C (TYRP1) | ||
| NM_000550.3:c.1143T>C (TYRP1) MANE Select | NP_000541.1:p.His381= |