HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57565458T= , CM000682.2:g.57565458T= | GRCh38 |
NC_000020.10:g.56140514T= , CM000682.1:g.56140514T= | GRCh37 |
NC_000020.9:g.55573920T= | NCBI36 |
NG_008205.1:g.9378T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.1523T= MANE Select | ENSP00000319814.4:p.Leu508= | |
ENST00000319441.5:c.1523T= | ENSP00000319814.4:p.Leu508= | |
ENST00000467047.1:n.4165T= | ||
NM_002591.3:c.1523T= | NP_002582.3:p.Leu508= | |
XM_011528839.1:c.1127T= | XP_011527141.1:p.Leu376= | |
XM_024451888.1:c.1127T= | XP_024307656.1:p.Leu376= | |
NM_002591.4:c.1523T= MANE Select | NP_002582.3:p.Leu508= |