HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38401451C= , CM000685.2:g.38401451C= | GRCh38 |
NC_000023.10:g.38260704C= , CM000685.1:g.38260704C= | GRCh37 |
NC_000023.9:g.38145648C= | NCBI36 |
NG_008471.1:g.53969C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000039007.5:c.540+23C= MANE Select | ENSP00000039007.4:n.540+23C= | |
ENST00000643344.1:c.*290+23C= | ENSP00000496606.1:n.*290+23C= | |
ENST00000039007.4:c.540+23C= | ENSP00000039007.4:n.540+23C= | |
ENST00000465127.1:c.172-264670C= | ENSP00000417050.1:n.172-264670C= | |
ENST00000488812.1:n.577+23C= | ||
NM_000531.5:c.540+23C= | NP_000522.3:n.540+23C= | |
XM_017029556.1:c.540+23C= | XP_016885045.1:n.540+23C= | |
NM_000531.6:c.540+23C= MANE Select | NP_000522.3:n.540+23C= |