HGVS | Genome Assembly |
---|---|
NC_000018.10:g.60371403A= , CM000680.2:g.60371403A= | GRCh38 |
NC_000018.9:g.58038636A= , CM000680.1:g.58038636A= | GRCh37 |
NC_000018.8:g.56189616A= | NCBI36 |
NG_016441.1:g.6366T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299766.5:c.947T= MANE Select | ENSP00000299766.3:p.Ile316= | |
ENST00000299766.4:c.947T= | ENSP00000299766.3:p.Ile316= | |
NM_005912.2:c.947T= | NP_005903.2:p.Ile316= | |
NM_005912.3:c.947T= MANE Select | NP_005903.2:p.Ile316= |