HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32813237A>C , CM000668.2:g.32813237A>C | GRCh38 |
NC_000006.11:g.32781014A>C , CM000668.1:g.32781014A>C | GRCh37 |
NC_000006.10:g.32888992A>C | NCBI36 |
NG_009793.3:g.30534T>G | |
NG_012008.1:g.8812T>G | |
NG_009793.4:g.30534T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438763.7:c.801T>G MANE Select | ENSP00000390020.2:p.Val267= | |
ENST00000648009.1:c.801T>G | ENSP00000496848.1:p.Val267= | |
ENST00000438763.6:c.801T>G | ENSP00000390020.2:p.Val267= | |
ENST00000475235.1:n.1324T>G | ||
ENST00000488325.5:c.*572T>G | ENSP00000436618.1:n.*572T>G | |
NM_002120.3:c.801T>G | NP_002111.1:p.Val267= | |
NM_002120.4:c.801T>G MANE Select | NP_002111.1:p.Val267= |