HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32814472T>G , CM000668.2:g.32814472T>G | GRCh38 |
NC_000006.11:g.32782249T>G , CM000668.1:g.32782249T>G | GRCh37 |
NC_000006.10:g.32890227T>G | NCBI36 |
NG_009793.3:g.29299A>C | |
NG_012008.1:g.7577A>C | |
NG_009793.4:g.29299A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438763.7:c.491A>C MANE Select | ENSP00000390020.2:p.Glu164Ala | |
ENST00000648009.1:c.491A>C | ENSP00000496848.1:p.Glu164Ala | |
ENST00000438763.6:c.491A>C | ENSP00000390020.2:p.Glu164Ala | |
ENST00000447394.1:c.441A>C | ||
ENST00000452392.2:c.2312A>C | ENSP00000391806.2:p.Glu771Ala | |
ENST00000475235.1:n.528A>C | ||
ENST00000488325.5:c.*262A>C | ENSP00000436618.1:n.*262A>C | |
NM_002120.3:c.491A>C | NP_002111.1:p.Glu164Ala | |
NM_002120.4:c.491A>C MANE Select | NP_002111.1:p.Glu164Ala |