HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4934018A>C , CM000679.2:g.4934018A>C | GRCh38 |
NC_000017.10:g.4837313A>C , CM000679.1:g.4837313A>C | GRCh37 |
NC_000017.9:g.4778054A>C | NCBI36 |
NG_008767.2:g.6724A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329125.6:c.1414A>C (GP1BA) MANE Select | ENSP00000329380.5:p.Ile472Leu | |
ENST00000649830.1:c.-888+324T>G (CHRNE) | ENSP00000496907.1:n.-888+324T>G | |
ENST00000329125.5:c.1414A>C (GP1BA) | ENSP00000329380.5:p.Ile472Leu | |
ENST00000611961.1:c.1336A>C (GP1BA) | ENSP00000484439.1:p.Ile446Leu | |
NM_000173.6:c.1414A>C (GP1BA) | NP_000164.5:p.Ile472Leu | |
NM_000173.7:c.1414A>C (GP1BA) MANE Select | NP_000164.5:p.Ile472Leu |