HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63482475G= , CM000679.2:g.63482475G= | GRCh38 |
NC_000017.10:g.61559836G= , CM000679.1:g.61559836G= | GRCh37 |
NC_000017.9:g.58913568G= | NCBI36 |
NG_011648.1:g.10403G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290866.10:c.1128G= MANE Select | ENSP00000290866.4:p.Gln376= | |
ENST00000290866.9:c.1128G= | ENSP00000290866.4:p.Gln376= | |
ENST00000428043.5:c.1128G= | ENSP00000397593.2:p.Gln376= | |
ENST00000582678.5:c.*527G= | ENSP00000462995.1:n.*527G= | |
ENST00000584529.5:n.1162G= | ||
NM_000789.3:c.1128G= | NP_000780.1:p.Gln376= | |
XM_005257110.1:c.579G= | XP_005257167.1:p.Gln193= | |
NM_000789.4:c.1128G= MANE Select | NP_000780.1:p.Gln376= | |
NM_001382700.1:c.561G= | NP_001369629.1:p.Gln187= | |
NM_001382701.1:c.276G= | NP_001369630.1:p.Gln92= |