HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659057A= , CM000685.2:g.136659057A= | GRCh38 |
NC_000023.10:g.135741216A= , CM000685.1:g.135741216A= | GRCh37 |
NC_000023.9:g.135568882A= | NCBI36 |
NG_007280.1:g.15881A= , LRG_141:g.15881A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*46A= | ENSP00000512122.1:n.*46A= | |
ENST00000695725.1:c.175A= | ENSP00000512123.1:p.Lys59= | |
ENST00000695726.1:n.2396A= | ||
ENST00000695729.1:n.3231A= | ||
ENST00000370629.7:c.428A= MANE Select | ENSP00000359663.2:p.Lys143= | |
ENST00000370628.2:c.365A= | ENSP00000359662.2:p.Lys122= | |
ENST00000370629.6:c.428A= | ENSP00000359663.2:p.Lys143= | |
NM_000074.2:c.428A= , LRG_141t1:c.428A= | NP_000065.1:p.Lys143= | |
NM_000074.3:c.428A= MANE Select | NP_000065.1:p.Lys143= |