HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24178390C>T , CM000668.2:g.24178390C>T | GRCh38 |
NC_000006.11:g.24178618C>T , CM000668.1:g.24178618C>T | GRCh37 |
NC_000006.10:g.24286597C>T | NCBI36 |
NG_012829.1:g.184663G>A | |
NG_012829.2:g.209903G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.1266G>A MANE Select | ENSP00000367715.3:p.Glu422= | |
ENST00000378450.6:c.525G>A | ENSP00000367711.3:p.Glu175= | |
ENST00000378454.7:c.1266G>A | ENSP00000367715.3:p.Glu422= | |
NM_001195610.1:c.1266G>A | NP_001182539.1:p.Glu422= | |
NM_016356.4:c.1266G>A | NP_057440.2:p.Glu422= | |
NM_016356.5:c.1266G>A MANE Select | NP_057440.2:p.Glu422= | |
NM_001195610.2:c.1266G>A | NP_001182539.1:p.Glu422= |