HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38401430T= , CM000685.2:g.38401430T= | GRCh38 |
NC_000023.10:g.38260683T= , CM000685.1:g.38260683T= | GRCh37 |
NC_000023.9:g.38145627T= | NCBI36 |
NG_008471.1:g.53948T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000039007.5:c.540+2T= MANE Select | ENSP00000039007.4:n.540+2T= | |
ENST00000643344.1:c.*290+2T= | ENSP00000496606.1:n.*290+2T= | |
ENST00000039007.4:c.540+2T= | ENSP00000039007.4:n.540+2T= | |
ENST00000465127.1:c.172-264691T= | ENSP00000417050.1:n.172-264691T= | |
ENST00000488812.1:n.577+2T= | ||
NM_000531.5:c.540+2T= | NP_000522.3:n.540+2T= | |
XM_017029556.1:c.540+2T= | XP_016885045.1:n.540+2T= | |
NM_000531.6:c.540+2T= MANE Select | NP_000522.3:n.540+2T= |