HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86575929A>C , CM000670.2:g.86575929A>C | GRCh38 |
NC_000008.10:g.87588157A>C , CM000670.1:g.87588157A>C | GRCh37 |
NC_000008.9:g.87657273A>C | NCBI36 |
NG_016980.1:g.172747T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.2305T>G MANE Select | ENSP00000316605.5:p.Ser769Ala | |
ENST00000681546.1:n.2125T>G | ||
ENST00000681746.1:c.*716T>G | ENSP00000505959.1:n.*716T>G | |
ENST00000320005.5:c.2305T>G | ENSP00000316605.5:p.Ser769Ala | |
ENST00000517327.5:c.276+2760T>G | ENSP00000428329.1:n.276+2760T>G | |
NM_019098.4:c.2305T>G | NP_061971.3:p.Ser769Ala | |
XM_011517138.1:c.1891T>G | XP_011515440.1:p.Ser631Ala | |
XM_011517138.2:c.1891T>G | XP_011515440.1:p.Ser631Ala | |
NM_019098.5:c.2305T>G MANE Select | NP_061971.3:p.Ser769Ala |