HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47574205T= , CM000685.2:g.47574205T= | GRCh38 |
NC_000023.10:g.47433604T= , CM000685.1:g.47433604T= | GRCh37 |
NC_000023.9:g.47318548T= | NCBI36 |
NG_008437.1:g.50653A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.1779A= MANE Select | ENSP00000295987.7:p.Lys593= | |
ENST00000340666.5:c.1779A= | ENSP00000343206.4:p.Lys593= | |
ENST00000640721.1:c.70+483A= | ENSP00000492857.1:n.70+483A= | |
ENST00000295987.11:c.1779A= | ENSP00000295987.7:p.Lys593= | |
ENST00000340666.4:c.1779A= | ENSP00000343206.4:p.Lys593= | |
NM_006950.3:c.1779A= MANE Select | NP_008881.2:p.Lys593= | |
NM_133499.2:c.1779A= | NP_598006.1:p.Lys593= |