HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99339632T= , CM000666.2:g.99339632T= | GRCh38 |
NC_000004.11:g.100260789T= , CM000666.1:g.100260789T= | GRCh37 |
NC_000004.10:g.100479812T= | NCBI36 |
NG_011718.1:g.18129A= |
HGVS | Amino-acid Change |
---|---|
NM_000669.5:c.1048A= (ADH1C) MANE Select | NP_000660.1:p.Ile350= |
ENST00000515683.6:c.1048A= (ADH1C) MANE Select | ENSP00000426083.1:p.Ile350= |
NM_000669.4:c.1048A= (ADH1C) | NP_000660.1:p.Ile350= |
NR_133005.1:n.1374A= (ADH1C) | |
NR_133005.2:n.1075A= (ADH1C) | |
ENST00000515683.5:c.1048A= (ADH1C) | ENSP00000426083.1:p.Ile350= |
ENST00000639454.1:c.18+13026A= (ADH1B) | ENSP00000491622.1:n.18+13026A= |
XM_011531588.1:c.946A= (ADH1C) | XP_011529890.1:p.Ile316= |
XM_011531589.1:c.928A= (ADH1C) | XP_011529891.1:p.Ile310= |