HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827653G>A , CM000667.2:g.148827653G>A | GRCh38 |
NC_000005.9:g.148207216G>A , CM000667.1:g.148207216G>A | GRCh37 |
NC_000005.8:g.148187409G>A | NCBI36 |
NG_016421.1:g.6061G>A | |
NG_016421.2:g.6061G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.822G>A MANE Select | ENSP00000305372.4:p.Thr274= | |
ENST00000305988.5:c.822G>A | ENSP00000305372.4:p.Thr274= | |
NM_000024.5:c.822G>A | NP_000015.1:p.Thr274= | |
NM_000024.6:c.822G>A MANE Select | NP_000015.2:p.Thr274= |