HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3083153T>G , CM000682.2:g.3083153T>G | GRCh38 |
NC_000020.10:g.3063799T>G , CM000682.1:g.3063799T>G | GRCh37 |
NC_000020.9:g.3011799T>G | NCBI36 |
NG_008663.1:g.6572A>C , LRG_715:g.6572A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380293.3:c.146A>C MANE Select | ENSP00000369647.3:p.Lys49Thr | |
NM_000490.4:c.146A>C , LRG_715t1:c.146A>C | NP_000481.2:p.Lys49Thr | |
XM_011529267.1:c.146A>C | XP_011527569.1:p.Lys49Thr | |
XM_011529267.2:c.146A>C | XP_011527569.1:p.Lys49Thr | |
NM_000490.5:c.146A>C MANE Select | NP_000481.2:p.Lys49Thr |