HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38401292C= , CM000685.2:g.38401292C= | GRCh38 |
NC_000023.10:g.38260545C= , CM000685.1:g.38260545C= | GRCh37 |
NC_000023.9:g.38145489C= | NCBI36 |
NG_008471.1:g.53810C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000039007.5:c.404C= MANE Select | ENSP00000039007.4:p.Ala135= | |
ENST00000643344.1:c.*154C= | ENSP00000496606.1:n.*154C= | |
ENST00000039007.4:c.404C= | ENSP00000039007.4:p.Ala135= | |
ENST00000465127.1:c.172-264829C= | ENSP00000417050.1:n.172-264829C= | |
ENST00000488812.1:n.441C= | ||
NM_000531.5:c.404C= | NP_000522.3:p.Ala135= | |
XM_017029556.1:c.404C= | XP_016885045.1:p.Ala135= | |
NM_000531.6:c.404C= MANE Select | NP_000522.3:p.Ala135= |