HGVS | Genome Assembly |
---|---|
NC_000009.12:g.12702402T>G , CM000671.2:g.12702402T>G | GRCh38 |
NC_000009.11:g.12702402T>G , CM000671.1:g.12702402T>G | GRCh37 |
NC_000009.10:g.12692402T>G | NCBI36 |
NG_011705.1:g.14017T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000388918.10:c.1045T>G (TYRP1) MANE Select | ENSP00000373570.4:p.Ser349Ala | |
ENST00000381136.2:c.175T>G (TYRP1) | ENSP00000370528.2:p.Ser59Ala | |
ENST00000381142.3:n.282T>G (TYRP1) | ||
ENST00000388918.9:c.1045T>G (TYRP1) | ENSP00000373570.4:p.Ser349Ala | |
ENST00000470909.1:n.303T>G (TYRP1) | ||
NM_000550.2:c.1045T>G (TYRP1) | NP_000541.1:p.Ser349Ala | |
NR_125775.1:n.317-1776A>C (LURAP1L-AS1) | ||
XR_001746372.2:n.1029T>G (TYRP1) | ||
NM_000550.3:c.1045T>G (TYRP1) MANE Select | NP_000541.1:p.Ser349Ala |