HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154133A>C , CM000681.2:g.55154133A>C | GRCh38 |
NC_000019.9:g.55665501A>C , CM000681.1:g.55665501A>C | GRCh37 |
NC_000019.8:g.60357313A>C | NCBI36 |
NG_007866.2:g.8600T>G , LRG_432:g.8600T>G | |
NG_011829.2:g.106T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.446T>G MANE Select | ENSP00000341838.5:p.Ile149Ser | |
ENST00000665070.1:c.479T>G | ENSP00000499482.1:p.Ile160Ser | |
ENST00000344887.9:c.446T>G | ENSP00000341838.5:p.Ile149Ser | |
ENST00000585806.5:n.445T>G | ||
ENST00000586669.5:n.454T>G | ||
ENST00000588882.1:c.371T>G | ENSP00000466729.1:p.Ile124Ser | |
ENST00000589864.1:n.274T>G | ||
NM_000363.4:c.446T>G , LRG_432t1:c.446T>G | NP_000354.4:p.Ile149Ser | |
NM_000363.5:c.446T>G MANE Select | NP_000354.4:p.Ile149Ser |