HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4934089C>T , CM000679.2:g.4934089C>T | GRCh38 |
NC_000017.10:g.4837384C>T , CM000679.1:g.4837384C>T | GRCh37 |
NC_000017.9:g.4778125C>T | NCBI36 |
NG_008767.2:g.6795C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329125.6:c.1485C>T (GP1BA) MANE Select | ENSP00000329380.5:p.Ile495= | |
ENST00000649830.1:c.-888+253G>A (CHRNE) | ENSP00000496907.1:n.-888+253G>A | |
ENST00000329125.5:c.1485C>T (GP1BA) | ENSP00000329380.5:p.Ile495= | |
ENST00000611961.1:c.1407C>T (GP1BA) | ENSP00000484439.1:p.Ile469= | |
NM_000173.6:c.1485C>T (GP1BA) | NP_000164.5:p.Ile495= | |
NM_000173.7:c.1485C>T (GP1BA) MANE Select | NP_000164.5:p.Ile495= |