HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1986020T>A , CM000678.2:g.1986020T>A | GRCh38 |
NC_000016.9:g.2036021T>A , CM000678.1:g.2036021T>A | GRCh37 |
NC_000016.8:g.1976022T>A | NCBI36 |
NG_016288.1:g.6872T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.385T>A | ENSP00000455885.1:p.Cys129Ser | |
ENST00000248114.7:c.610T>A MANE Select | ENSP00000248114.6:p.Cys204Ser | |
ENST00000248114.6:c.610T>A | ENSP00000248114.6:p.Cys204Ser | |
ENST00000565658.1:n.767T>A | ||
ENST00000567719.1:c.385T>A | ENSP00000455885.1:p.Cys129Ser | |
ENST00000569451.1:c.*83T>A | ENSP00000456432.1:n.*83T>A | |
NM_005262.2:c.610T>A | NP_005253.3:p.Cys204Ser | |
NM_005262.3:c.610T>A MANE Select | NP_005253.3:p.Cys204Ser |