HGVS | Genome Assembly |
---|---|
NC_000004.12:g.40354279T>G , CM000666.2:g.40354279T>G | GRCh38 |
NC_000004.11:g.40356296T>G , CM000666.1:g.40356296T>G | GRCh37 |
NC_000004.10:g.40051053T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310169.3:c.1199T>G MANE Select | ENSP00000312663.2:p.Leu400Ter | |
ENST00000310169.2:c.1199T>G | ENSP00000312663.2:p.Leu400Ter | |
NM_017581.3:c.1199T>G | NP_060051.2:p.Leu400Ter | |
NM_017581.4:c.1199T>G MANE Select | NP_060051.2:p.Leu400Ter |