HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154058T>G , CM000681.2:g.55154058T>G | GRCh38 |
NC_000019.9:g.55665426T>G , CM000681.1:g.55665426T>G | GRCh37 |
NC_000019.8:g.60357238T>G | NCBI36 |
NG_007866.2:g.8675A>C , LRG_432:g.8675A>C | |
NG_011829.2:g.181A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.521A>C MANE Select | ENSP00000341838.5:p.Lys174Thr | |
ENST00000665070.1:c.554A>C | ENSP00000499482.1:p.Lys185Thr | |
ENST00000344887.9:c.521A>C | ENSP00000341838.5:p.Lys174Thr | |
ENST00000585806.5:n.520A>C | ||
ENST00000588882.1:c.446A>C | ENSP00000466729.1:p.Lys149Thr | |
ENST00000589864.1:n.349A>C | ||
NM_000363.4:c.521A>C , LRG_432t1:c.521A>C | NP_000354.4:p.Lys174Thr | |
NM_000363.5:c.521A>C MANE Select | NP_000354.4:p.Lys174Thr |