Linked Data
ClinVar Variation Id:
2999298
ClinVar RCV Id:
RCV003851929
dbSNP Id:
rs1818181769
MyVariant Identifiers:
chr9:g.12702284G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12702284G>T , CM000671.2:g.12702284G>T | GRCh38 |
| NC_000009.11:g.12702284G>T , CM000671.1:g.12702284G>T | GRCh37 |
| NC_000009.10:g.12692284G>T | NCBI36 |
| NG_011705.1:g.13899G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.927G>T (TYRP1) MANE Select | ENSP00000373570.4:p.Gly309= | |
| ENST00000381136.2:c.57G>T (TYRP1) | ENSP00000370528.2:p.Gly19= | |
| ENST00000381142.3:n.164G>T (TYRP1) | ||
| ENST00000388918.9:c.927G>T (TYRP1) | ENSP00000373570.4:p.Gly309= | |
| ENST00000470909.1:n.185G>T (TYRP1) | ||
| NM_000550.2:c.927G>T (TYRP1) | NP_000541.1:p.Gly309= | |
| NR_125775.1:n.317-1658C>A (LURAP1L-AS1) | ||
| XR_001746372.2:n.911G>T (TYRP1) | ||
| NM_000550.3:c.927G>T (TYRP1) MANE Select | NP_000541.1:p.Gly309= |