HGVS | Genome Assembly |
---|---|
NC_000015.10:g.71811820C>A , CM000677.2:g.71811820C>A | GRCh38 |
NC_000015.9:g.72104160C>A , CM000677.1:g.72104160C>A | GRCh37 |
NC_000015.8:g.69891214C>A | NCBI36 |
NG_009113.2:g.6266C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617575.5:c.300C>A MANE Select | ENSP00000482504.1:p.Cys100Ter | |
ENST00000617575.4:c.300C>A | ENSP00000482504.1:p.Cys100Ter | |
ENST00000621098.1:c.300C>A | ENSP00000479962.1:p.Cys100Ter | |
ENST00000621736.4:c.36C>A | ENSP00000479254.1:p.Cys12Ter | |
NM_014249.3:c.300C>A | NP_055064.1:p.Cys100Ter | |
NM_016346.3:c.300C>A | NP_057430.1:p.Cys100Ter | |
XM_011521146.1:c.36C>A | XP_011519448.1:p.Cys12Ter | |
NM_014249.4:c.300C>A MANE Select | NP_055064.1:p.Cys100Ter | |
NM_016346.4:c.300C>A | NP_057430.1:p.Cys100Ter |