HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4933884C>T , CM000679.2:g.4933884C>T | GRCh38 |
NC_000017.10:g.4837179C>T , CM000679.1:g.4837179C>T | GRCh37 |
NG_008767.2:g.6590C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329125.6:c.1280C>T (GP1BA) MANE Select | ENSP00000329380.5:p.Thr427Ile | |
ENST00000649830.1:c.-888+458G>A (CHRNE) | ENSP00000496907.1:n.-888+458G>A | |
ENST00000329125.5:c.1280C>T (GP1BA) | ENSP00000329380.5:p.Thr427Ile | |
ENST00000611961.1:c.1272+8C>T (GP1BA) | ENSP00000484439.1:n.1272+8C>T | |
NM_000173.6:c.1280C>T (GP1BA) | NP_000164.5:p.Thr427Ile | |
NM_000173.7:c.1280C>T (GP1BA) MANE Select | NP_000164.5:p.Thr427Ile |