HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739329A= , CM000674.2:g.120739329A= | GRCh38 |
NC_000012.11:g.121177132A= , CM000674.1:g.121177132A= | GRCh37 |
NC_000012.10:g.119661515A= | NCBI36 |
NG_007991.1:g.18562A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.1120A= MANE Select | ENSP00000242592.4:p.Thr374= | |
ENST00000242592.8:c.1120A= | ENSP00000242592.4:p.Thr374= | |
ENST00000411593.2:c.1108A= | ENSP00000401045.2:p.Thr370= | |
NM_000017.3:c.1120A= | NP_000008.1:p.Thr374= | |
NM_001302554.1:c.1108A= | NP_001289483.1:p.Thr370= | |
NM_000017.4:c.1120A= MANE Select | NP_000008.1:p.Thr374= | |
NM_001302554.2:c.1108A= | NP_001289483.1:p.Thr370= |