HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74529439C>A , CM000685.2:g.74529439C>A | GRCh38 |
NC_000023.10:g.73749274C>A , CM000685.1:g.73749274C>A | GRCh37 |
NC_000023.9:g.73665999C>A | NCBI36 |
NG_011641.1:g.113190C>A | |
NG_011641.2:g.113190C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000587091.6:c.1397C>A MANE Select | ENSP00000465734.1:p.Ala466Glu | |
ENST00000636771.1:c.1306C>A | ||
ENST00000587091.5:c.1397C>A | ENSP00000465734.1:p.Ala466Glu | |
ENST00000590447.1:c.611-1894C>A | ||
NM_006517.4:c.1397C>A | NP_006508.2:p.Ala466Glu | |
XM_005262294.1:c.1171-1894C>A | XP_005262351.1:n.1171-1894C>A | |
NM_006517.5:c.1397C>A MANE Select | NP_006508.2:p.Ala466Glu |