HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4934098T>G , CM000679.2:g.4934098T>G | GRCh38 |
NC_000017.10:g.4837393T>G , CM000679.1:g.4837393T>G | GRCh37 |
NC_000017.9:g.4778134T>G | NCBI36 |
NG_008767.2:g.6804T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329125.6:c.1494T>G (GP1BA) MANE Select | ENSP00000329380.5:p.Leu498= | |
ENST00000649830.1:c.-888+244A>C (CHRNE) | ENSP00000496907.1:n.-888+244A>C | |
ENST00000329125.5:c.1494T>G (GP1BA) | ENSP00000329380.5:p.Leu498= | |
ENST00000611961.1:c.1416T>G (GP1BA) | ENSP00000484439.1:p.Leu472= | |
NM_000173.6:c.1494T>G (GP1BA) | NP_000164.5:p.Leu498= | |
NM_000173.7:c.1494T>G (GP1BA) MANE Select | NP_000164.5:p.Leu498= |