HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38401517T= , CM000685.2:g.38401517T= | GRCh38 |
NC_000023.10:g.38260770T= , CM000685.1:g.38260770T= | GRCh37 |
NC_000023.9:g.38145714T= | NCBI36 |
NG_008471.1:g.54035T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.540+89T= MANE Select | ENSP00000039007.4:n.540+89T= | |
ENST00000643344.1:c.*290+89T= | ENSP00000496606.1:n.*290+89T= | |
ENST00000039007.4:c.540+89T= | ENSP00000039007.4:n.540+89T= | |
ENST00000465127.1:c.172-264604T= | ENSP00000417050.1:n.172-264604T= | |
ENST00000488812.1:n.577+89T= | ||
NM_000531.5:c.540+89T= | NP_000522.3:n.540+89T= | |
XM_017029556.1:c.540+89T= | XP_016885045.1:n.540+89T= | |
NM_000531.6:c.540+89T= MANE Select | NP_000522.3:n.540+89T= |