HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832842T>A , CM000673.2:g.116832842T>A | GRCh38 |
NC_000011.9:g.116703558T>A , CM000673.1:g.116703558T>A | GRCh37 |
NC_000011.8:g.116208768T>A | NCBI36 |
NG_008949.1:g.7935T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.258T>A MANE Select | ENSP00000227667.2:p.Asp86Glu | |
ENST00000227667.7:c.258T>A | ENSP00000227667.2:p.Asp86Glu | |
ENST00000375345.3:c.312T>A | ENSP00000364494.1:p.Asp104Glu | |
ENST00000630701.1:c.312T>A | ENSP00000486182.1:p.Asp104Glu | |
NM_000040.1:c.258T>A | NP_000031.1:p.Asp86Glu | |
NM_000040.2:c.258T>A | NP_000031.1:p.Asp86Glu | |
NM_000040.3:c.258T>A MANE Select | NP_000031.1:p.Asp86Glu |