HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32813241G>A , CM000668.2:g.32813241G>A | GRCh38 |
NC_000006.11:g.32781018G>A , CM000668.1:g.32781018G>A | GRCh37 |
NC_000006.10:g.32888996G>A | NCBI36 |
NG_009793.3:g.30530C>T | |
NG_012008.1:g.8808C>T | |
NG_009793.4:g.30530C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438763.7:c.797C>T MANE Select | ENSP00000390020.2:p.Ala266Val | |
ENST00000648009.1:c.797C>T | ENSP00000496848.1:p.Ala266Val | |
ENST00000438763.6:c.797C>T | ENSP00000390020.2:p.Ala266Val | |
ENST00000475235.1:n.1320C>T | ||
ENST00000488325.5:c.*568C>T | ENSP00000436618.1:n.*568C>T | |
NM_002120.3:c.797C>T | NP_002111.1:p.Ala266Val | |
NM_002120.4:c.797C>T MANE Select | NP_002111.1:p.Ala266Val |