HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24178466T>A , CM000668.2:g.24178466T>A | GRCh38 |
NC_000006.11:g.24178694T>A , CM000668.1:g.24178694T>A | GRCh37 |
NC_000006.10:g.24286673T>A | NCBI36 |
NG_012829.1:g.184587A>T | |
NG_012829.2:g.209827A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.1190A>T MANE Select | ENSP00000367715.3:p.Gln397Leu | |
ENST00000378450.6:c.449A>T | ENSP00000367711.3:p.Gln150Leu | |
ENST00000378454.7:c.1190A>T | ENSP00000367715.3:p.Gln397Leu | |
NM_001195610.1:c.1190A>T | NP_001182539.1:p.Gln397Leu | |
NM_016356.4:c.1190A>T | NP_057440.2:p.Gln397Leu | |
NM_016356.5:c.1190A>T MANE Select | NP_057440.2:p.Gln397Leu | |
NM_001195610.2:c.1190A>T | NP_001182539.1:p.Gln397Leu |