HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128318925G>T , CM000667.2:g.128318925G>T | GRCh38 |
NC_000005.9:g.127654617G>T , CM000667.1:g.127654617G>T | GRCh37 |
NC_000005.8:g.127682516G>T | NCBI36 |
NG_008750.1:g.224119C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703783.1:n.1332C>A | ||
ENST00000703785.1:n.1413C>A | ||
ENST00000262464.9:c.4548C>A MANE Select | ENSP00000262464.4:p.Ile1516= | |
ENST00000262464.8:c.4548C>A | ENSP00000262464.4:p.Ile1516= | |
ENST00000508053.5:c.4548C>A | ENSP00000424571.1:p.Ile1516= | |
ENST00000619499.4:c.4545C>A | ENSP00000482132.1:p.Ile1515= | |
NM_001999.3:c.4548C>A | NP_001990.2:p.Ile1516= | |
XM_017009228.2:c.4395C>A | XP_016864717.1:p.Ile1465= | |
NM_001999.4:c.4548C>A MANE Select | NP_001990.2:p.Ile1516= |