HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154180A>C , CM000681.2:g.55154180A>C | GRCh38 |
NC_000019.9:g.55665548A>C , CM000681.1:g.55665548A>C | GRCh37 |
NC_000019.8:g.60357360A>C | NCBI36 |
NG_007866.2:g.8553T>G , LRG_432:g.8553T>G | |
NG_011829.2:g.59T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.399T>G MANE Select | ENSP00000341838.5:p.Phe133Leu | |
ENST00000665070.1:c.432T>G | ENSP00000499482.1:p.Phe144Leu | |
ENST00000344887.9:c.399T>G | ENSP00000341838.5:p.Phe133Leu | |
ENST00000585806.5:n.398T>G | ||
ENST00000586669.5:n.407T>G | ||
ENST00000588882.1:c.324T>G | ENSP00000466729.1:p.Phe108Leu | |
ENST00000589864.1:n.227T>G | ||
NM_000363.4:c.399T>G , LRG_432t1:c.399T>G | NP_000354.4:p.Phe133Leu | |
NM_000363.5:c.399T>G MANE Select | NP_000354.4:p.Phe133Leu |