HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659405T>A , CM000685.2:g.136659405T>A | GRCh38 |
NC_000023.10:g.135741564T>A , CM000685.1:g.135741564T>A | GRCh37 |
NC_000023.9:g.135569230T>A | NCBI36 |
NG_007280.1:g.16229T>A , LRG_141:g.16229T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695724.1:c.*394T>A | ENSP00000512122.1:n.*394T>A | |
ENST00000695725.1:c.*331T>A | ENSP00000512123.1:n.*331T>A | |
ENST00000695726.1:n.2744T>A | ||
ENST00000695729.1:n.3579T>A | ||
ENST00000370629.7:c.776T>A MANE Select | ENSP00000359663.2:p.Leu259His | |
ENST00000370628.2:c.713T>A | ENSP00000359662.2:p.Leu238His | |
ENST00000370629.6:c.776T>A | ENSP00000359663.2:p.Leu259His | |
NM_000074.2:c.776T>A , LRG_141t1:c.776T>A | NP_000065.1:p.Leu259His | |
NM_000074.3:c.776T>A MANE Select | NP_000065.1:p.Leu259His |