HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74421995T>G , CM000685.2:g.74421995T>G | GRCh38 |
NC_000023.10:g.73641830T>G , CM000685.1:g.73641830T>G | GRCh37 |
NC_000023.9:g.73558555T>G | NCBI36 |
NG_011641.1:g.5746T>G | |
NG_011641.2:g.5746T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000587091.6:c.358T>G MANE Select | ENSP00000465734.1:p.Ser120Ala | |
ENST00000636771.1:c.104T>G | ||
ENST00000587091.5:c.358T>G | ENSP00000465734.1:p.Ser120Ala | |
NM_006517.4:c.358T>G | NP_006508.2:p.Ser120Ala | |
XM_005262294.1:c.358T>G | XP_005262351.1:p.Ser120Ala | |
XM_011531015.1:c.358T>G | XP_011529317.1:p.Ser120Ala | |
NM_006517.5:c.358T>G MANE Select | NP_006508.2:p.Ser120Ala |