HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659207T>A , CM000685.2:g.136659207T>A | GRCh38 |
NC_000023.10:g.135741366T>A , CM000685.1:g.135741366T>A | GRCh37 |
NC_000023.9:g.135569032T>A | NCBI36 |
NG_007280.1:g.16031T>A , LRG_141:g.16031T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*196T>A | ENSP00000512122.1:n.*196T>A | |
ENST00000695725.1:c.*133T>A | ENSP00000512123.1:n.*133T>A | |
ENST00000695726.1:n.2546T>A | ||
ENST00000695729.1:n.3381T>A | ||
ENST00000370629.7:c.578T>A MANE Select | ENSP00000359663.2:p.Leu193His | |
ENST00000370628.2:c.515T>A | ENSP00000359662.2:p.Leu172His | |
ENST00000370629.6:c.578T>A | ENSP00000359663.2:p.Leu193His | |
NM_000074.2:c.578T>A , LRG_141t1:c.578T>A | NP_000065.1:p.Leu193His | |
NM_000074.3:c.578T>A MANE Select | NP_000065.1:p.Leu193His |