HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32813240A>G , CM000668.2:g.32813240A>G | GRCh38 |
NC_000006.11:g.32781017A>G , CM000668.1:g.32781017A>G | GRCh37 |
NC_000006.10:g.32888995A>G | NCBI36 |
NG_009793.3:g.30531T>C | |
NG_012008.1:g.8809T>C | |
NG_009793.4:g.30531T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438763.7:c.798T>C MANE Select | ENSP00000390020.2:p.Ala266= | |
ENST00000648009.1:c.798T>C | ENSP00000496848.1:p.Ala266= | |
ENST00000438763.6:c.798T>C | ENSP00000390020.2:p.Ala266= | |
ENST00000475235.1:n.1321T>C | ||
ENST00000488325.5:c.*569T>C | ENSP00000436618.1:n.*569T>C | |
NM_002120.3:c.798T>C | NP_002111.1:p.Ala266= | |
NM_002120.4:c.798T>C MANE Select | NP_002111.1:p.Ala266= |