Linked Data
gnomAD v4:
9-12702414-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12702414A>G , CM000671.2:g.12702414A>G | GRCh38 |
| NC_000009.11:g.12702414A>G , CM000671.1:g.12702414A>G | GRCh37 |
| NC_000009.10:g.12692414A>G | NCBI36 |
| NG_011705.1:g.14029A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1057A>G (TYRP1) MANE Select | ENSP00000373570.4:p.Asn353Asp | |
| ENST00000381136.2:c.187A>G (TYRP1) | ENSP00000370528.2:p.Asn63Asp | |
| ENST00000381142.3:n.294A>G (TYRP1) | ||
| ENST00000388918.9:c.1057A>G (TYRP1) | ENSP00000373570.4:p.Asn353Asp | |
| ENST00000470909.1:n.315A>G (TYRP1) | ||
| NM_000550.2:c.1057A>G (TYRP1) | NP_000541.1:p.Asn353Asp | |
| NR_125775.1:n.317-1788T>C (LURAP1L-AS1) | ||
| XR_001746372.2:n.1041A>G (TYRP1) | ||
| NM_000550.3:c.1057A>G (TYRP1) MANE Select | NP_000541.1:p.Asn353Asp |