HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190404838T= , CM000665.2:g.190404838T= | GRCh38 |
NC_000003.11:g.190122627T= , CM000665.1:g.190122627T= | GRCh37 |
NC_000003.10:g.191605321T= | NCBI36 |
NG_008149.1:g.21787T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.294T= MANE Select | ENSP00000264734.3:p.Leu98= | |
ENST00000456423.2:c.115-5065T= | ENSP00000414136.2:n.115-5065T= | |
ENST00000264734.2:c.504T= | ENSP00000264734.2:p.Leu168= | |
ENST00000456423.1:c.325-5065T= | ENSP00000414136.1:n.325-5065T= | |
ENST00000468220.1:n.486T= | ||
NM_006580.3:c.504T= | NP_006571.1:p.Leu168= | |
NM_001378492.1:c.294T= | NP_001365421.1:p.Leu98= | |
NM_001378493.1:c.294T= | NP_001365422.1:p.Leu98= | |
NM_006580.4:c.294T= MANE Select | NP_006571.2:p.Leu98= |