Linked Data
gnomAD v4:
9-12704687-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12704687C>G , CM000671.2:g.12704687C>G | GRCh38 |
| NC_000009.11:g.12704687C>G , CM000671.1:g.12704687C>G | GRCh37 |
| NC_000009.10:g.12694687C>G | NCBI36 |
| NG_011705.1:g.16302C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1243C>G (TYRP1) MANE Select | ENSP00000373570.4:p.Leu415Val | |
| ENST00000381136.2:c.373C>G (TYRP1) | ENSP00000370528.2:p.Leu125Val | |
| ENST00000381142.3:n.480C>G (TYRP1) | ||
| ENST00000388918.9:c.1243C>G (TYRP1) | ENSP00000373570.4:p.Leu415Val | |
| NM_000550.2:c.1243C>G (TYRP1) | NP_000541.1:p.Leu415Val | |
| NR_125775.1:n.317-4061G>C (LURAP1L-AS1) | ||
| XR_001746372.2:n.1227C>G (TYRP1) | ||
| NM_000550.3:c.1243C>G (TYRP1) MANE Select | NP_000541.1:p.Leu415Val |