HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2317688A>G , CM000678.2:g.2317688A>G | GRCh38 |
NC_000016.9:g.2367689A>G , CM000678.1:g.2367689A>G | GRCh37 |
NC_000016.8:g.2307690A>G | NCBI36 |
NG_011790.1:g.28059T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.950T>C MANE Select | ENSP00000301732.5:p.Leu317Pro | |
ENST00000301732.9:c.950T>C | ENSP00000301732.5:p.Leu317Pro | |
ENST00000382381.7:c.950T>C | ENSP00000371818.3:p.Leu317Pro | |
ENST00000563623.5:n.1513T>C | ||
NM_001089.2:c.950T>C | NP_001080.2:p.Leu317Pro | |
NM_001089.3:c.950T>C MANE Select | NP_001080.2:p.Leu317Pro |