HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832839G>A , CM000673.2:g.116832839G>A | GRCh38 |
NC_000011.9:g.116703555G>A , CM000673.1:g.116703555G>A | GRCh37 |
NC_000011.8:g.116208765G>A | NCBI36 |
NG_008949.1:g.7932G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227667.8:c.255G>A MANE Select | ENSP00000227667.2:p.Trp85Ter | |
ENST00000227667.7:c.255G>A | ENSP00000227667.2:p.Trp85Ter | |
ENST00000375345.3:c.309G>A | ENSP00000364494.1:p.Trp103Ter | |
ENST00000630701.1:c.309G>A | ENSP00000486182.1:p.Trp103Ter | |
NM_000040.1:c.255G>A | NP_000031.1:p.Trp85Ter | |
NM_000040.2:c.255G>A | NP_000031.1:p.Trp85Ter | |
NM_000040.3:c.255G>A MANE Select | NP_000031.1:p.Trp85Ter |