HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4932904A>G , CM000679.2:g.4932904A>G | GRCh38 |
NC_000017.10:g.4836199A>G , CM000679.1:g.4836199A>G | GRCh37 |
NC_000017.9:g.4776979A>G | NCBI36 |
NG_008767.2:g.5610A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329125.6:c.300A>G (GP1BA) MANE Select | ENSP00000329380.5:p.Leu100= | |
ENST00000649830.1:c.-888+1438T>C (CHRNE) | ENSP00000496907.1:n.-888+1438T>C | |
ENST00000329125.5:c.300A>G (GP1BA) | ENSP00000329380.5:p.Leu100= | |
ENST00000611961.1:c.300A>G (GP1BA) | ENSP00000484439.1:p.Leu100= | |
NM_000173.6:c.300A>G (GP1BA) | NP_000164.5:p.Leu100= | |
NM_000173.7:c.300A>G (GP1BA) MANE Select | NP_000164.5:p.Leu100= |