HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675835T>G , CM000685.2:g.38675835T>G | GRCh38 |
NC_000023.10:g.38535089T>G , CM000685.1:g.38535089T>G | GRCh37 |
NC_000023.9:g.38420033T>G | NCBI36 |
NG_009160.1:g.119359T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.572T>G MANE Select | ENSP00000367743.2:p.Val191Gly | |
ENST00000286824.6:c.623T>G | ENSP00000286824.6:p.Val208Gly | |
ENST00000378482.6:c.572T>G | ENSP00000367743.2:p.Val191Gly | |
ENST00000419600.3:n.516T>G | ||
ENST00000465127.1:c.662T>G | ENSP00000417050.1:p.Val221Gly | |
ENST00000471410.5:c.*598T>G | ENSP00000419290.1:n.*598T>G | |
ENST00000475216.5:c.*565T>G | ENSP00000418586.1:n.*565T>G | |
NM_004615.3:c.572T>G | NP_004606.2:p.Val191Gly | |
NM_004615.4:c.572T>G MANE Select | NP_004606.2:p.Val191Gly |