HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63482471A= , CM000679.2:g.63482471A= | GRCh38 |
NC_000017.10:g.61559832A= , CM000679.1:g.61559832A= | GRCh37 |
NC_000017.9:g.58913564A= | NCBI36 |
NG_011648.1:g.10399A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290866.10:c.1124A= MANE Select | ENSP00000290866.4:p.Lys375= | |
ENST00000290866.9:c.1124A= | ENSP00000290866.4:p.Lys375= | |
ENST00000428043.5:c.1124A= | ENSP00000397593.2:p.Lys375= | |
ENST00000582678.5:c.*523A= | ENSP00000462995.1:n.*523A= | |
ENST00000584529.5:n.1158A= | ||
NM_000789.3:c.1124A= | NP_000780.1:p.Lys375= | |
XM_005257110.1:c.575A= | XP_005257167.1:p.Lys192= | |
NM_000789.4:c.1124A= MANE Select | NP_000780.1:p.Lys375= | |
NM_001382700.1:c.557A= | NP_001369629.1:p.Lys186= | |
NM_001382701.1:c.272A= | NP_001369630.1:p.Lys91= |