HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2317686T>C , CM000678.2:g.2317686T>C | GRCh38 |
NC_000016.9:g.2367687T>C , CM000678.1:g.2367687T>C | GRCh37 |
NC_000016.8:g.2307688T>C | NCBI36 |
NG_011790.1:g.28061A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.952A>G MANE Select | ENSP00000301732.5:p.Ile318Val | |
ENST00000301732.9:c.952A>G | ENSP00000301732.5:p.Ile318Val | |
ENST00000382381.7:c.952A>G | ENSP00000371818.3:p.Ile318Val | |
ENST00000563623.5:n.1515A>G | ||
NM_001089.2:c.952A>G | NP_001080.2:p.Ile318Val | |
NM_001089.3:c.952A>G MANE Select | NP_001080.2:p.Ile318Val |