HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50910082A>C , CM000676.2:g.50910082A>C | GRCh38 |
NC_000014.8:g.51376800A>C , CM000676.1:g.51376800A>C | GRCh37 |
NC_000014.7:g.50446550A>C | NCBI36 |
NG_012796.1:g.39449T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216392.8:c.1990T>G MANE Select | ENSP00000216392.7:p.Ser664Ala | |
ENST00000216392.7:c.1990T>G | ENSP00000216392.7:p.Ser664Ala | |
ENST00000532107.2:n.163T>G | ||
ENST00000532462.5:c.1990T>G | ENSP00000431657.1:p.Ser664Ala | |
ENST00000544180.6:c.1888T>G | ENSP00000443787.1:p.Ser630Ala | |
NM_001163940.1:c.1888T>G | NP_001157412.1:p.Ser630Ala | |
NM_002863.4:c.1990T>G | NP_002854.3:p.Ser664Ala | |
NM_002863.5:c.1990T>G MANE Select | NP_002854.3:p.Ser664Ala | |
NM_001163940.2:c.1888T>G | NP_001157412.1:p.Ser630Ala |