HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38403644T>G , CM000685.2:g.38403644T>G | GRCh38 |
NC_000023.10:g.38262897T>G , CM000685.1:g.38262897T>G | GRCh37 |
NC_000023.9:g.38147841T>G | NCBI36 |
NG_008471.1:g.56162T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.567T>G MANE Select | ENSP00000039007.4:p.Leu189= | |
ENST00000643344.1:c.*317T>G | ENSP00000496606.1:n.*317T>G | |
ENST00000039007.4:c.567T>G | ENSP00000039007.4:p.Leu189= | |
ENST00000465127.1:c.172-262477T>G | ENSP00000417050.1:n.172-262477T>G | |
ENST00000488812.1:n.604T>G | ||
NM_000531.5:c.567T>G | NP_000522.3:p.Leu189= | |
XM_017029556.1:c.567T>G | XP_016885045.1:p.Leu189= | |
NM_000531.6:c.567T>G MANE Select | NP_000522.3:p.Leu189= |