Linked Data
dbSNP Id:
rs373409941
ExAC:
9:12708128 G / A
gnomAD v2:
9-12708128-G-A
gnomAD v4:
9-12708128-G-A
COSMIC:
COSM752734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12708128G>A , CM000671.2:g.12708128G>A | GRCh38 |
| NC_000009.11:g.12708128G>A , CM000671.1:g.12708128G>A | GRCh37 |
| NC_000009.10:g.12698128G>A | NCBI36 |
| NG_011705.1:g.19743G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1393G>A (TYRP1) MANE Select | ENSP00000373570.4:p.Glu465Lys | |
| ENST00000381136.2:c.523G>A (TYRP1) | ENSP00000370528.2:p.Glu175Lys | |
| ENST00000381142.3:n.499-849G>A (TYRP1) | ||
| ENST00000388918.9:c.1393G>A (TYRP1) | ENSP00000373570.4:p.Glu465Lys | |
| ENST00000473504.1:n.458G>A (TYRP1) | ||
| NM_000550.2:c.1393G>A (TYRP1) | NP_000541.1:p.Glu465Lys | |
| NR_125775.1:n.317-7502C>T (LURAP1L-AS1) | ||
| XR_001746372.2:n.1377G>A (TYRP1) | ||
| NM_000550.3:c.1393G>A (TYRP1) MANE Select | NP_000541.1:p.Glu465Lys |