HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24302002A>C , CM000668.2:g.24302002A>C | GRCh38 |
NC_000006.11:g.24302230A>C , CM000668.1:g.24302230A>C | GRCh37 |
NC_000006.10:g.24410209A>C | NCBI36 |
NG_012829.1:g.61051T>G | |
NG_012829.2:g.86291T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.391T>G MANE Select | ENSP00000367715.3:p.Phe131Val | |
ENST00000378454.7:c.391T>G | ENSP00000367715.3:p.Phe131Val | |
NM_001195610.1:c.391T>G | NP_001182539.1:p.Phe131Val | |
NM_016356.4:c.391T>G | NP_057440.2:p.Phe131Val | |
NM_016356.5:c.391T>G MANE Select | NP_057440.2:p.Phe131Val | |
NM_001195610.2:c.391T>G | NP_001182539.1:p.Phe131Val |