Linked Data
ClinVar Variation Id:
2017092
ClinVar RCV Id:
RCV002851903
dbSNP Id:
rs1818181102
gnomAD v4:
9-12702262-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12702262T>C , CM000671.2:g.12702262T>C | GRCh38 |
| NC_000009.11:g.12702262T>C , CM000671.1:g.12702262T>C | GRCh37 |
| NC_000009.10:g.12692262T>C | NCBI36 |
| NG_011705.1:g.13877T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.914-9T>C (TYRP1) MANE Select | ENSP00000373570.4:n.914-9T>C | |
| ENST00000381136.2:c.44-9T>C (TYRP1) | ENSP00000370528.2:n.44-9T>C | |
| ENST00000381142.3:n.151-9T>C (TYRP1) | ||
| ENST00000388918.9:c.914-9T>C (TYRP1) | ENSP00000373570.4:n.914-9T>C | |
| ENST00000470909.1:n.172-9T>C (TYRP1) | ||
| NM_000550.2:c.914-9T>C (TYRP1) | NP_000541.1:n.914-9T>C | |
| NR_125775.1:n.317-1636A>G (LURAP1L-AS1) | ||
| XR_001746372.2:n.898-9T>C (TYRP1) | ||
| NM_000550.3:c.914-9T>C (TYRP1) MANE Select | NP_000541.1:n.914-9T>C |