HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1986006G= , CM000678.2:g.1986006G= | GRCh38 |
NC_000016.9:g.2036007G= , CM000678.1:g.2036007G= | GRCh37 |
NC_000016.8:g.1976008G= | NCBI36 |
NG_016288.1:g.6858G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000567719.2:c.371G= | ENSP00000455885.1:p.Trp124= | |
ENST00000248114.7:c.596G= MANE Select | ENSP00000248114.6:p.Trp199= | |
ENST00000248114.6:c.596G= | ENSP00000248114.6:p.Trp199= | |
ENST00000565658.1:n.753G= | ||
ENST00000567719.1:c.371G= | ENSP00000455885.1:p.Trp124= | |
ENST00000569451.1:c.*69G= | ENSP00000456432.1:n.*69G= | |
NM_005262.2:c.596G= | NP_005253.3:p.Trp199= | |
NM_005262.3:c.596G= MANE Select | NP_005253.3:p.Trp199= |