Linked Data
ClinVar Variation Id:
364856
dbSNP Id:
rs145061390
ExAC:
9:12702386 C / T
gnomAD v2:
9-12702386-C-T
gnomAD v3:
9-12702386-C-T
gnomAD v4:
9-12702386-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12702386C>T , CM000671.2:g.12702386C>T | GRCh38 |
| NC_000009.11:g.12702386C>T , CM000671.1:g.12702386C>T | GRCh37 |
| NC_000009.10:g.12692386C>T | NCBI36 |
| NG_011705.1:g.14001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1029C>T (TYRP1) MANE Select | ENSP00000373570.4:p.Asp343= | |
| ENST00000381136.2:c.159C>T (TYRP1) | ENSP00000370528.2:p.Asp53= | |
| ENST00000381142.3:n.266C>T (TYRP1) | ||
| ENST00000388918.9:c.1029C>T (TYRP1) | ENSP00000373570.4:p.Asp343= | |
| ENST00000470909.1:n.287C>T (TYRP1) | ||
| NM_000550.2:c.1029C>T (TYRP1) | NP_000541.1:p.Asp343= | |
| NR_125775.1:n.317-1760G>A (LURAP1L-AS1) | ||
| XR_001746372.2:n.1013C>T (TYRP1) | ||
| NM_000550.3:c.1029C>T (TYRP1) MANE Select | NP_000541.1:p.Asp343= |