HGVS | Genome Assembly |
---|---|
NC_000023.11:g.106033603T>A , CM000685.2:g.106033603T>A | GRCh38 |
NC_000023.10:g.105277594T>A , CM000685.1:g.105277594T>A | GRCh37 |
NC_000023.9:g.105164250T>A | NCBI36 |
NG_021252.1:g.10125A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372563.2:c.1145A>T MANE Select | ENSP00000361644.1:p.His382Leu | |
ENST00000327674.8:c.1145A>T | ENSP00000329374.4:p.His382Leu | |
ENST00000372563.1:c.1145A>T | ENSP00000361644.1:p.His382Leu | |
NM_000354.5:c.1145A>T | NP_000345.2:p.His382Leu | |
XM_006724683.1:c.1175A>T | XP_006724746.1:p.His392Leu | |
XM_005262180.4:c.*90A>T | XP_005262237.1:n.*90A>T | |
XM_006724683.2:c.1175A>T | XP_006724746.1:p.His392Leu | |
NM_000354.6:c.1145A>T MANE Select | NP_000345.2:p.His382Leu |