HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827687T>A , CM000667.2:g.148827687T>A | GRCh38 |
NC_000005.9:g.148207250T>A , CM000667.1:g.148207250T>A | GRCh37 |
NC_000005.8:g.148187443T>A | NCBI36 |
NG_016421.1:g.6095T>A | |
NG_016421.2:g.6095T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.856T>A MANE Select | ENSP00000305372.4:p.Trp286Arg | |
ENST00000305988.5:c.856T>A | ENSP00000305372.4:p.Trp286Arg | |
NM_000024.5:c.856T>A | NP_000015.1:p.Trp286Arg | |
NM_000024.6:c.856T>A MANE Select | NP_000015.2:p.Trp286Arg |