HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827665C>A , CM000667.2:g.148827665C>A | GRCh38 |
NC_000005.9:g.148207228C>A , CM000667.1:g.148207228C>A | GRCh37 |
NC_000005.8:g.148187421C>A | NCBI36 |
NG_016421.1:g.6073C>A | |
NG_016421.2:g.6073C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.834C>A MANE Select | ENSP00000305372.4:p.Ile278= | |
ENST00000305988.5:c.834C>A | ENSP00000305372.4:p.Ile278= | |
NM_000024.5:c.834C>A | NP_000015.1:p.Ile278= | |
NM_000024.6:c.834C>A MANE Select | NP_000015.2:p.Ile278= |