Linked Data
ClinVar Variation Id:
2759530
ClinVar RCV Id:
RCV003564795
MyVariant Identifiers:
chr9:g.12702293G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12702293G>A , CM000671.2:g.12702293G>A | GRCh38 |
| NC_000009.11:g.12702293G>A , CM000671.1:g.12702293G>A | GRCh37 |
| NC_000009.10:g.12692293G>A | NCBI36 |
| NG_011705.1:g.13908G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.936G>A (TYRP1) MANE Select | ENSP00000373570.4:p.Arg312= | |
| ENST00000381136.2:c.66G>A (TYRP1) | ENSP00000370528.2:p.Arg22= | |
| ENST00000381142.3:n.173G>A (TYRP1) | ||
| ENST00000388918.9:c.936G>A (TYRP1) | ENSP00000373570.4:p.Arg312= | |
| ENST00000470909.1:n.194G>A (TYRP1) | ||
| NM_000550.2:c.936G>A (TYRP1) | NP_000541.1:p.Arg312= | |
| NR_125775.1:n.317-1667C>T (LURAP1L-AS1) | ||
| XR_001746372.2:n.920G>A (TYRP1) | ||
| NM_000550.3:c.936G>A (TYRP1) MANE Select | NP_000541.1:p.Arg312= |