HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832834T>G , CM000673.2:g.116832834T>G | GRCh38 |
NC_000011.9:g.116703550T>G , CM000673.1:g.116703550T>G | GRCh37 |
NC_000011.8:g.116208760T>G | NCBI36 |
NG_008949.1:g.7927T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.250T>G MANE Select | ENSP00000227667.2:p.Phe84Val | |
ENST00000227667.7:c.250T>G | ENSP00000227667.2:p.Phe84Val | |
ENST00000375345.3:c.304T>G | ENSP00000364494.1:p.Phe102Val | |
ENST00000630701.1:c.304T>G | ENSP00000486182.1:p.Phe102Val | |
NM_000040.1:c.250T>G | NP_000031.1:p.Phe84Val | |
NM_000040.2:c.250T>G | NP_000031.1:p.Phe84Val | |
NM_000040.3:c.250T>G MANE Select | NP_000031.1:p.Phe84Val |