HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764136T= , CM000674.2:g.57764136T= | GRCh38 |
NC_000012.11:g.58157919T= , CM000674.1:g.58157919T= | GRCh37 |
NC_000012.10:g.56444186T= | NCBI36 |
NG_007076.1:g.8058A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000713544.1:c.1258A= | ENSP00000518840.1:p.Lys420= | |
ENST00000713545.1:c.*182A= | ENSP00000518841.1:n.*182A= | |
ENST00000228606.9:c.1177A= MANE Select | ENSP00000228606.4:p.Lys393= | |
ENST00000228606.8:c.1177A= | ENSP00000228606.4:p.Lys393= | |
ENST00000547344.5:n.1316A= | ||
NM_000785.3:c.1177A= | NP_000776.1:p.Lys393= | |
NM_000785.4:c.1177A= MANE Select | NP_000776.1:p.Lys393= |