Linked Data
ClinVar Variation Id:
1054579
ClinVar RCV Id:
RCV001363104
dbSNP Id:
rs370228098
ExAC:
9:12708123 C / A
gnomAD v2:
9-12708123-C-A
gnomAD v4:
9-12708123-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12708123C>A , CM000671.2:g.12708123C>A | GRCh38 |
| NC_000009.11:g.12708123C>A , CM000671.1:g.12708123C>A | GRCh37 |
| NC_000009.10:g.12698123C>A | NCBI36 |
| NG_011705.1:g.19738C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1388C>A (TYRP1) MANE Select | ENSP00000373570.4:p.Thr463Asn | |
| ENST00000381136.2:c.518C>A (TYRP1) | ENSP00000370528.2:p.Thr173Asn | |
| ENST00000381142.3:n.499-854C>A (TYRP1) | ||
| ENST00000388918.9:c.1388C>A (TYRP1) | ENSP00000373570.4:p.Thr463Asn | |
| ENST00000473504.1:n.453C>A (TYRP1) | ||
| NM_000550.2:c.1388C>A (TYRP1) | NP_000541.1:p.Thr463Asn | |
| NR_125775.1:n.317-7497G>T (LURAP1L-AS1) | ||
| XR_001746372.2:n.1372C>A (TYRP1) | ||
| NM_000550.3:c.1388C>A (TYRP1) MANE Select | NP_000541.1:p.Thr463Asn |