HGVS | Genome Assembly |
---|---|
NC_000009.12:g.12704693A>C , CM000671.2:g.12704693A>C | GRCh38 |
NC_000009.11:g.12704693A>C , CM000671.1:g.12704693A>C | GRCh37 |
NC_000009.10:g.12694693A>C | NCBI36 |
NG_011705.1:g.16308A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000388918.10:c.1249A>C (TYRP1) MANE Select | ENSP00000373570.4:p.Arg417= | |
ENST00000381136.2:c.379A>C (TYRP1) | ENSP00000370528.2:p.Arg127= | |
ENST00000381142.3:n.486A>C (TYRP1) | ||
ENST00000388918.9:c.1249A>C (TYRP1) | ENSP00000373570.4:p.Arg417= | |
NM_000550.2:c.1249A>C (TYRP1) | NP_000541.1:p.Arg417= | |
NR_125775.1:n.317-4067T>G (LURAP1L-AS1) | ||
XR_001746372.2:n.1233A>C (TYRP1) | ||
NM_000550.3:c.1249A>C (TYRP1) MANE Select | NP_000541.1:p.Arg417= |