HGVS | Genome Assembly |
---|---|
NC_000020.11:g.6096912T>A , CM000682.2:g.6096912T>A | GRCh38 |
NC_000020.10:g.6077559T>A , CM000682.1:g.6077559T>A | GRCh37 |
NC_000020.9:g.6025559T>A | NCBI36 |
NG_016213.1:g.31633A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000699095.1:c.1079A>T | ENSP00000514127.1:p.Asp360Val | |
ENST00000699096.1:n.1541A>T | ||
ENST00000699097.1:n.249A>T | ||
ENST00000217289.9:c.1079A>T MANE Select | ENSP00000217289.4:p.Asp360Val | |
ENST00000217289.8:c.1079A>T | ENSP00000217289.4:p.Asp360Val | |
ENST00000536936.1:c.308A>T | ENSP00000441063.1:p.Asp103Val | |
NM_017671.4:c.1079A>T | NP_060141.3:p.Asp360Val | |
XM_024451935.1:c.1079A>T | XP_024307703.1:p.Asp360Val | |
NM_017671.5:c.1079A>T MANE Select | NP_060141.3:p.Asp360Val |