HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24178401C>A , CM000668.2:g.24178401C>A | GRCh38 |
NC_000006.11:g.24178629C>A , CM000668.1:g.24178629C>A | GRCh37 |
NC_000006.10:g.24286608C>A | NCBI36 |
NG_012829.1:g.184652G>T | |
NG_012829.2:g.209892G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.1255G>T MANE Select | ENSP00000367715.3:p.Val419Phe | |
ENST00000378450.6:c.514G>T | ENSP00000367711.3:p.Val172Phe | |
ENST00000378454.7:c.1255G>T | ENSP00000367715.3:p.Val419Phe | |
NM_001195610.1:c.1255G>T | NP_001182539.1:p.Val419Phe | |
NM_016356.4:c.1255G>T | NP_057440.2:p.Val419Phe | |
NM_016356.5:c.1255G>T MANE Select | NP_057440.2:p.Val419Phe | |
NM_001195610.2:c.1255G>T | NP_001182539.1:p.Val419Phe |