Linked Data
ClinVar Variation Id:
17595
dbSNP Id:
rs121912778
ExAC:
9:12704564 C / T
gnomAD v2:
9-12704564-C-T
gnomAD v3:
9-12704564-C-T
gnomAD v4:
9-12704564-C-T
COSMIC:
COSM3432849
PubMed:
PMID:15996218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12704564C>T , CM000671.2:g.12704564C>T | GRCh38 |
| NC_000009.11:g.12704564C>T , CM000671.1:g.12704564C>T | GRCh37 |
| NC_000009.10:g.12694564C>T | NCBI36 |
| NG_011705.1:g.16179C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388918.10:c.1120C>T (TYRP1) MANE Select | ENSP00000373570.4:p.Arg374Ter | |
| ENST00000381136.2:c.250C>T (TYRP1) | ENSP00000370528.2:p.Arg84Ter | |
| ENST00000381142.3:n.357C>T (TYRP1) | ||
| ENST00000388918.9:c.1120C>T (TYRP1) | ENSP00000373570.4:p.Arg374Ter | |
| NM_000550.2:c.1120C>T (TYRP1) | NP_000541.1:p.Arg374Ter | |
| NR_125775.1:n.317-3938G>A (LURAP1L-AS1) | ||
| XR_001746372.2:n.1104C>T (TYRP1) | ||
| NM_000550.3:c.1120C>T (TYRP1) MANE Select | NP_000541.1:p.Arg374Ter |