HGVS | Genome Assembly |
---|---|
NC_000002.12:g.84441337A>C , CM000664.2:g.84441337A>C | GRCh38 |
NC_000002.11:g.84668461A>C , CM000664.1:g.84668461A>C | GRCh37 |
NC_000002.10:g.84521972A>C | NCBI36 |
NG_016755.1:g.23126T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000393868.7:c.441T>G MANE Select | ENSP00000377446.2:p.Ile147Met | |
ENST00000651342.1:c.441T>G | ENSP00000498471.1:p.Ile147Met | |
ENST00000393868.6:c.441T>G | ENSP00000377446.2:p.Ile147Met | |
ENST00000430989.1:n.481T>G | ||
ENST00000442240.5:c.452T>G | ||
ENST00000483605.5:n.520T>G | ||
ENST00000491642.5:n.613T>G | ||
NM_003849.3:c.441T>G | NP_003840.2:p.Ile147Met | |
NM_003849.4:c.441T>G MANE Select | NP_003840.2:p.Ile147Met |