HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32814364A>T , CM000668.2:g.32814364A>T | GRCh38 |
NC_000006.11:g.32782141A>T , CM000668.1:g.32782141A>T | GRCh37 |
NC_000006.10:g.32890119A>T | NCBI36 |
NG_009793.3:g.29407T>A | |
NG_012008.1:g.7685T>A | |
NG_009793.4:g.29407T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438763.7:c.599T>A MANE Select | ENSP00000390020.2:p.Leu200His | |
ENST00000648009.1:c.599T>A | ENSP00000496848.1:p.Leu200His | |
ENST00000438763.6:c.599T>A | ENSP00000390020.2:p.Leu200His | |
ENST00000452392.2:c.2420T>A | ENSP00000391806.2:p.Leu807His | |
ENST00000475235.1:n.636T>A | ||
ENST00000488325.5:c.*370T>A | ENSP00000436618.1:n.*370T>A | |
NM_002120.3:c.599T>A | NP_002111.1:p.Leu200His | |
NM_002120.4:c.599T>A MANE Select | NP_002111.1:p.Leu200His |