HGVS | Genome Assembly |
---|---|
NC_000015.10:g.97960880T>A , CM000677.2:g.97960880T>A | GRCh38 |
NC_000015.9:g.98504110T>A , CM000677.1:g.98504110T>A | GRCh37 |
NC_000015.8:g.96305114T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000268042.7:c.19T>A MANE Select | ENSP00000268042.6:p.Cys7Ser | |
ENST00000268042.6:c.19T>A | ENSP00000268042.6:p.Cys7Ser | |
NM_183376.2:c.19T>A | NP_899232.2:p.Cys7Ser | |
NM_183376.3:c.19T>A MANE Select | NP_899232.2:p.Cys7Ser |