HGVS | Genome Assembly |
---|---|
NC_000009.12:g.12702336C>A , CM000671.2:g.12702336C>A | GRCh38 |
NC_000009.11:g.12702336C>A , CM000671.1:g.12702336C>A | GRCh37 |
NC_000009.10:g.12692336C>A | NCBI36 |
NG_011705.1:g.13951C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000388918.10:c.979C>A (TYRP1) MANE Select | ENSP00000373570.4:p.Leu327Ile | |
ENST00000381136.2:c.109C>A (TYRP1) | ENSP00000370528.2:p.Leu37Ile | |
ENST00000381142.3:n.216C>A (TYRP1) | ||
ENST00000388918.9:c.979C>A (TYRP1) | ENSP00000373570.4:p.Leu327Ile | |
ENST00000470909.1:n.237C>A (TYRP1) | ||
NM_000550.2:c.979C>A (TYRP1) | NP_000541.1:p.Leu327Ile | |
NR_125775.1:n.317-1710G>T (LURAP1L-AS1) | ||
XR_001746372.2:n.963C>A (TYRP1) | ||
NM_000550.3:c.979C>A (TYRP1) MANE Select | NP_000541.1:p.Leu327Ile |