HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659376T= , CM000685.2:g.136659376T= | GRCh38 |
NC_000023.10:g.135741535T= , CM000685.1:g.135741535T= | GRCh37 |
NC_000023.9:g.135569201T= | NCBI36 |
NG_007280.1:g.16200T= , LRG_141:g.16200T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*365T= | ENSP00000512122.1:n.*365T= | |
ENST00000695725.1:c.*302T= | ENSP00000512123.1:n.*302T= | |
ENST00000695726.1:n.2715T= | ||
ENST00000695729.1:n.3550T= | ||
ENST00000370629.7:c.747T= MANE Select | ENSP00000359663.2:p.His249= | |
ENST00000370628.2:c.684T= | ENSP00000359662.2:p.His228= | |
ENST00000370629.6:c.747T= | ENSP00000359663.2:p.His249= | |
NM_000074.2:c.747T= , LRG_141t1:c.747T= | NP_000065.1:p.His249= | |
NM_000074.3:c.747T= MANE Select | NP_000065.1:p.His249= |