HGVS | Genome Assembly |
---|---|
NC_000012.12:g.34026839T>G , CM000674.2:g.34026839T>G | GRCh38 |
NC_000012.11:g.34179774T>G , CM000674.1:g.34179774T>G | GRCh37 |
NC_000012.10:g.34071041T>G | NCBI36 |
NG_016389.1:g.9559T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000266483.7:c.1346T>G MANE Select | ENSP00000266483.2:p.Phe449Cys | |
ENST00000266483.6:c.1346T>G | ENSP00000266483.2:p.Phe449Cys | |
ENST00000538927.1:c.369+2680T>G | ENSP00000444084.1:n.369+2680T>G | |
ENST00000541875.1:c.*1086T>G | ENSP00000443142.1:n.*1086T>G | |
NM_032834.3:c.1346T>G | NP_116223.3:p.Phe449Cys | |
XM_024449230.1:c.1166T>G | XP_024304998.1:p.Phe389Cys | |
XM_024449231.1:c.1166T>G | XP_024304999.1:p.Phe389Cys | |
NM_032834.4:c.1346T>G MANE Select | NP_116223.3:p.Phe449Cys |