HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32813238A>G , CM000668.2:g.32813238A>G | GRCh38 |
NC_000006.11:g.32781015A>G , CM000668.1:g.32781015A>G | GRCh37 |
NC_000006.10:g.32888993A>G | NCBI36 |
NG_009793.3:g.30533T>C | |
NG_012008.1:g.8811T>C | |
NG_009793.4:g.30533T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438763.7:c.800T>C MANE Select | ENSP00000390020.2:p.Val267Ala | |
ENST00000648009.1:c.800T>C | ENSP00000496848.1:p.Val267Ala | |
ENST00000438763.6:c.800T>C | ENSP00000390020.2:p.Val267Ala | |
ENST00000475235.1:n.1323T>C | ||
ENST00000488325.5:c.*571T>C | ENSP00000436618.1:n.*571T>C | |
NM_002120.3:c.800T>C | NP_002111.1:p.Val267Ala | |
NM_002120.4:c.800T>C MANE Select | NP_002111.1:p.Val267Ala |