Linked Data
ClinVar Variation Id:
1060357
ClinVar RCV Id:
RCV001369781
dbSNP Id:
rs990957770
gnomAD v2:
9-12702280-A-G
gnomAD v3:
9-12702280-A-G
gnomAD v4:
9-12702280-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12702280A>G , CM000671.2:g.12702280A>G | GRCh38 |
| NC_000009.11:g.12702280A>G , CM000671.1:g.12702280A>G | GRCh37 |
| NC_000009.10:g.12692280A>G | NCBI36 |
| NG_011705.1:g.13895A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.923A>G (TYRP1) MANE Select | ENSP00000373570.4:p.Asp308Gly | |
| ENST00000381136.2:c.53A>G (TYRP1) | ENSP00000370528.2:p.Asp18Gly | |
| ENST00000381142.3:n.160A>G (TYRP1) | ||
| ENST00000388918.9:c.923A>G (TYRP1) | ENSP00000373570.4:p.Asp308Gly | |
| ENST00000470909.1:n.181A>G (TYRP1) | ||
| NM_000550.2:c.923A>G (TYRP1) | NP_000541.1:p.Asp308Gly | |
| NR_125775.1:n.317-1654T>C (LURAP1L-AS1) | ||
| XR_001746372.2:n.907A>G (TYRP1) | ||
| NM_000550.3:c.923A>G (TYRP1) MANE Select | NP_000541.1:p.Asp308Gly |