HGVS | Genome Assembly |
---|---|
NC_000009.12:g.12704699A>G , CM000671.2:g.12704699A>G | GRCh38 |
NC_000009.11:g.12704699A>G , CM000671.1:g.12704699A>G | GRCh37 |
NC_000009.10:g.12694699A>G | NCBI36 |
NG_011705.1:g.16314A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000388918.10:c.1255A>G (TYRP1) MANE Select | ENSP00000373570.4:p.Asn419Asp | |
ENST00000381136.2:c.385A>G (TYRP1) | ENSP00000370528.2:p.Asn129Asp | |
ENST00000381142.3:n.492A>G (TYRP1) | ||
ENST00000388918.9:c.1255A>G (TYRP1) | ENSP00000373570.4:p.Asn419Asp | |
NM_000550.2:c.1255A>G (TYRP1) | NP_000541.1:p.Asn419Asp | |
NR_125775.1:n.317-4073T>C (LURAP1L-AS1) | ||
XR_001746372.2:n.1239A>G (TYRP1) | ||
NM_000550.3:c.1255A>G (TYRP1) MANE Select | NP_000541.1:p.Asn419Asp |