HGVS | Genome Assembly |
---|---|
NC_000002.12:g.84425483A>C , CM000664.2:g.84425483A>C | GRCh38 |
NC_000002.11:g.84652607A>C , CM000664.1:g.84652607A>C | GRCh37 |
NC_000002.10:g.84506118A>C | NCBI36 |
NG_016755.1:g.38980T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393868.7:c.946T>G MANE Select | ENSP00000377446.2:p.Ser316Ala | |
ENST00000651342.1:c.*386T>G | ENSP00000498471.1:n.*386T>G | |
ENST00000393868.6:c.946T>G | ENSP00000377446.2:p.Ser316Ala | |
ENST00000484365.1:n.1454T>G | ||
ENST00000487809.1:n.693T>G | ||
ENST00000491123.5:n.792T>G | ||
NM_003849.3:c.946T>G | NP_003840.2:p.Ser316Ala | |
NM_003849.4:c.946T>G MANE Select | NP_003840.2:p.Ser316Ala |