HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3082695G>T , CM000682.2:g.3082695G>T | GRCh38 |
NC_000020.10:g.3063341G>T , CM000682.1:g.3063341G>T | GRCh37 |
NC_000020.9:g.3011341G>T | NCBI36 |
NG_008663.1:g.7030C>A , LRG_715:g.7030C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380293.3:c.430C>A MANE Select | ENSP00000369647.3:p.Leu144Met | |
NM_000490.4:c.430C>A , LRG_715t1:c.430C>A | NP_000481.2:p.Leu144Met | |
XM_011529267.1:c.430C>A | XP_011527569.1:p.Leu144Met | |
XM_011529267.2:c.430C>A | XP_011527569.1:p.Leu144Met | |
NM_000490.5:c.430C>A MANE Select | NP_000481.2:p.Leu144Met |