Linked Data
ClinVar Variation Id:
212527
ClinVar RCV Id:
RCV000192929
dbSNP Id:
rs776174514
ExAC:
9:12704589 T / C
gnomAD v2:
9-12704589-T-C
gnomAD v4:
9-12704589-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12704589T>C , CM000671.2:g.12704589T>C | GRCh38 |
| NC_000009.11:g.12704589T>C , CM000671.1:g.12704589T>C | GRCh37 |
| NC_000009.10:g.12694589T>C | NCBI36 |
| NG_011705.1:g.16204T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388918.10:c.1145T>C (TYRP1) MANE Select | ENSP00000373570.4:p.Leu382Pro | |
| ENST00000381136.2:c.275T>C (TYRP1) | ENSP00000370528.2:p.Leu92Pro | |
| ENST00000381142.3:n.382T>C (TYRP1) | ||
| ENST00000388918.9:c.1145T>C (TYRP1) | ENSP00000373570.4:p.Leu382Pro | |
| NM_000550.2:c.1145T>C (TYRP1) | NP_000541.1:p.Leu382Pro | |
| NR_125775.1:n.317-3963A>G (LURAP1L-AS1) | ||
| XR_001746372.2:n.1129T>C (TYRP1) | ||
| NM_000550.3:c.1145T>C (TYRP1) MANE Select | NP_000541.1:p.Leu382Pro |