HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4933081C>T , CM000679.2:g.4933081C>T | GRCh38 |
NC_000017.10:g.4836376C>T , CM000679.1:g.4836376C>T | GRCh37 |
NC_000017.9:g.4777156C>T | NCBI36 |
NG_008767.2:g.5787C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329125.6:c.477C>T (GP1BA) MANE Select | ENSP00000329380.5:p.Leu159= | |
ENST00000649830.1:c.-888+1261G>A (CHRNE) | ENSP00000496907.1:n.-888+1261G>A | |
ENST00000329125.5:c.477C>T (GP1BA) | ENSP00000329380.5:p.Leu159= | |
ENST00000611961.1:c.477C>T (GP1BA) | ENSP00000484439.1:p.Leu159= | |
NM_000173.6:c.477C>T (GP1BA) | NP_000164.5:p.Leu159= | |
NM_000173.7:c.477C>T (GP1BA) MANE Select | NP_000164.5:p.Leu159= |