HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787239T>G , CM000686.2:g.2787239T>G | GRCh38 |
NC_000024.9:g.2655280T>G , CM000686.1:g.2655280T>G | GRCh37 |
NC_000024.8:g.2715280T>G | NCBI36 |
NG_011751.1:g.5513A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679518.1:n.106+12500T>G | ||
ENST00000679825.1:n.351T>G | ||
ENST00000680285.1:n.320-2510T>G | ||
ENST00000680845.1:n.165+186T>G | ||
ENST00000681787.1:n.106+12500T>G | ||
ENST00000681940.1:n.106+12500T>G | ||
ENST00000383070.2:c.365A>C MANE Select | ENSP00000372547.1:p.Glu122Ala | |
ENST00000383070.1:c.365A>C | ENSP00000372547.1:p.Glu122Ala | |
NM_003140.2:c.365A>C | NP_003131.1:p.Glu122Ala | |
NM_003140.3:c.365A>C MANE Select | NP_003131.1:p.Glu122Ala |