HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38411995T= , CM000685.2:g.38411995T= | GRCh38 |
NC_000023.10:g.38271248T= , CM000685.1:g.38271248T= | GRCh37 |
NC_000023.9:g.38156192T= | NCBI36 |
NG_008471.1:g.64513T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.1001T= MANE Select | ENSP00000039007.4:p.Ile334= | |
ENST00000643344.1:c.*751T= | ENSP00000496606.1:n.*751T= | |
ENST00000039007.4:c.1001T= | ENSP00000039007.4:p.Ile334= | |
ENST00000465127.1:c.172-254126T= | ENSP00000417050.1:n.172-254126T= | |
NM_000531.5:c.1001T= | NP_000522.3:p.Ile334= | |
NM_000531.6:c.1001T= MANE Select | NP_000522.3:p.Ile334= |