HGVS | Genome Assembly |
---|---|
NC_000019.10:g.1226629G>A , CM000681.2:g.1226629G>A | GRCh38 |
NC_000019.9:g.1226628G>A , CM000681.1:g.1226628G>A | GRCh37 |
NC_000019.8:g.1177628G>A | NCBI36 |
NG_007460.2:g.42223G>A , LRG_319:g.42223G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000585465.3:c.*2885G>A | ENSP00000490268.2:n.*2885G>A | |
ENST00000585748.3:c.912G>A | ENSP00000477641.2:p.Ser304= | |
ENST00000585851.2:c.1110G>A | ENSP00000467912.2:p.Ser370= | |
ENST00000326873.12:c.1284G>A MANE Select | ENSP00000324856.6:p.Ser428= | |
ENST00000326873.11:c.1284G>A | ENSP00000324856.6:p.Ser428= | |
ENST00000585465.2:n.3017G>A | ||
ENST00000586243.5:c.1281G>A | ENSP00000467240.2:p.Ser427= | |
ENST00000589152.5:n.1982G>A | ||
NM_000455.4:c.1284G>A , LRG_319t1:c.1284G>A | NP_000446.1:p.Ser428= | |
XM_005259617.1:c.1279G>A | XP_005259674.1:p.Gly427Ser | |
XM_011528209.1:c.1057G>A | XP_011526511.1:p.Gly353Ser | |
XM_005259617.3:c.1279G>A | XP_005259674.1:p.Gly427Ser | |
XM_011528209.2:c.1057G>A | XP_011526511.1:p.Gly353Ser | |
XR_001753738.2:n.2090G>A | ||
XR_001753740.2:n.2060G>A | ||
NM_000455.5:c.1284G>A MANE Select | NP_000446.1:p.Ser428= |