HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659230T= , CM000685.2:g.136659230T= | GRCh38 |
NC_000023.10:g.135741389T= , CM000685.1:g.135741389T= | GRCh37 |
NC_000023.9:g.135569055T= | NCBI36 |
NG_007280.1:g.16054T= , LRG_141:g.16054T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*219T= | ENSP00000512122.1:n.*219T= | |
ENST00000695725.1:c.*156T= | ENSP00000512123.1:n.*156T= | |
ENST00000695726.1:n.2569T= | ||
ENST00000695729.1:n.3404T= | ||
ENST00000370629.7:c.601T= MANE Select | ENSP00000359663.2:p.Phe201= | |
ENST00000370628.2:c.538T= | ENSP00000359662.2:p.Phe180= | |
ENST00000370629.6:c.601T= | ENSP00000359663.2:p.Phe201= | |
NM_000074.2:c.601T= , LRG_141t1:c.601T= | NP_000065.1:p.Phe201= | |
NM_000074.3:c.601T= MANE Select | NP_000065.1:p.Phe201= |