HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4932846G>C , CM000679.2:g.4932846G>C | GRCh38 |
NC_000017.10:g.4836141G>C , CM000679.1:g.4836141G>C | GRCh37 |
NC_000017.9:g.4776921G>C | NCBI36 |
NG_008767.2:g.5552G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329125.6:c.242G>C (GP1BA) MANE Select | ENSP00000329380.5:p.Cys81Ser | |
ENST00000649830.1:c.-888+1496C>G (CHRNE) | ENSP00000496907.1:n.-888+1496C>G | |
ENST00000329125.5:c.242G>C (GP1BA) | ENSP00000329380.5:p.Cys81Ser | |
ENST00000611961.1:c.242G>C (GP1BA) | ENSP00000484439.1:p.Cys81Ser | |
NM_000173.6:c.242G>C (GP1BA) | NP_000164.5:p.Cys81Ser | |
NM_000173.7:c.242G>C (GP1BA) MANE Select | NP_000164.5:p.Cys81Ser |