HGVS | Genome Assembly |
---|---|
NC_000002.12:g.84441339T>G , CM000664.2:g.84441339T>G | GRCh38 |
NC_000002.11:g.84668463T>G , CM000664.1:g.84668463T>G | GRCh37 |
NC_000002.10:g.84521974T>G | NCBI36 |
NG_016755.1:g.23124A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000393868.7:c.439A>C MANE Select | ENSP00000377446.2:p.Ile147Leu | |
ENST00000651342.1:c.439A>C | ENSP00000498471.1:p.Ile147Leu | |
ENST00000393868.6:c.439A>C | ENSP00000377446.2:p.Ile147Leu | |
ENST00000430989.1:n.479A>C | ||
ENST00000442240.5:c.450A>C | ||
ENST00000483605.5:n.518A>C | ||
ENST00000491642.5:n.611A>C | ||
NM_003849.3:c.439A>C | NP_003840.2:p.Ile147Leu | |
NM_003849.4:c.439A>C MANE Select | NP_003840.2:p.Ile147Leu |