Linked Data
dbSNP Id:
rs766691498
ExAC:
9:12702304 C / G
gnomAD v2:
9-12702304-C-G
gnomAD v3:
9-12702304-C-G
gnomAD v4:
9-12702304-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12702304C>G , CM000671.2:g.12702304C>G | GRCh38 |
| NC_000009.11:g.12702304C>G , CM000671.1:g.12702304C>G | GRCh37 |
| NC_000009.10:g.12692304C>G | NCBI36 |
| NG_011705.1:g.13919C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.947C>G (TYRP1) MANE Select | ENSP00000373570.4:p.Ala316Gly | |
| ENST00000381136.2:c.77C>G (TYRP1) | ENSP00000370528.2:p.Ala26Gly | |
| ENST00000381142.3:n.184C>G (TYRP1) | ||
| ENST00000388918.9:c.947C>G (TYRP1) | ENSP00000373570.4:p.Ala316Gly | |
| ENST00000470909.1:n.205C>G (TYRP1) | ||
| NM_000550.2:c.947C>G (TYRP1) | NP_000541.1:p.Ala316Gly | |
| NR_125775.1:n.317-1678G>C (LURAP1L-AS1) | ||
| XR_001746372.2:n.931C>G (TYRP1) | ||
| NM_000550.3:c.947C>G (TYRP1) MANE Select | NP_000541.1:p.Ala316Gly |