HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372364T>G , CM000679.2:g.44372364T>G | GRCh38 |
NC_000017.10:g.42449732T>G , CM000679.1:g.42449732T>G | GRCh37 |
NC_000017.9:g.39805258T>G | NCBI36 |
NG_008331.1:g.22142A>C , LRG_479:g.22142A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.3120A>C MANE Select | ENSP00000262407.5:p.Ter1040Cys | |
ENST00000648408.1:c.2434A>C | ||
ENST00000262407.5:c.3120A>C | ENSP00000262407.5:p.Ter1040Cys | |
ENST00000587295.5:c.313A>C | ||
ENST00000588098.1:c.97A>C | ||
NM_000419.3:c.3120A>C , LRG_479t1:c.3120A>C | NP_000410.2:p.Ter1040Cys | |
XM_011524749.1:c.3018A>C | XP_011523051.1:p.Ter1006Cys | |
XM_011524750.1:c.3003A>C | XP_011523052.1:p.Ter1001Cys | |
NM_000419.4:c.3120A>C | NP_000410.2:p.Ter1040Cys | |
NM_000419.5:c.3120A>C MANE Select | NP_000410.2:p.Ter1040Cys |