HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271117A= , CM000668.2:g.31271117A= | GRCh38 |
NC_000006.11:g.31238894A= , CM000668.1:g.31238894A= | GRCh37 |
NC_000006.10:g.31346873A= | NCBI36 |
NG_029422.2:g.6015T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.575T= MANE Select | ENSP00000365402.5:p.Leu192= | |
ENST00000376228.9:c.575T= | ENSP00000365402.5:p.Leu192= | |
ENST00000376237.8:c.*162T= | ENSP00000365412.4:n.*162T= | |
ENST00000383329.7:c.575T= | ENSP00000372819.3:p.Leu192= | |
ENST00000415537.1:c.573T= | ||
ENST00000484378.1:n.844T= | ||
ENST00000487245.5:n.934T= | ||
ENST00000495835.1:n.764T= | ||
NM_002117.5:c.575T= | NP_002108.4:p.Leu192= | |
NM_002117.6:c.575T= MANE Select | NP_002108.4:p.Leu192= |