HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94842866A>G , CM000672.2:g.94842866A>G | GRCh38 |
NG_008384.2:g.85161A>G | |
NG_008384.3:g.85186A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.991A>G MANE Select | ENSP00000360372.3:p.Ile331Val | |
ENST00000645461.1:n.1902A>G | ||
ENST00000371321.7:c.991A>G | ENSP00000360372.3:p.Ile331Val | |
ENST00000464755.1:c.1754A>G | ENSP00000483243.1:n.1754A>G | |
NM_000769.2:c.991A>G | NP_000760.1:p.Ile331Val | |
NM_000769.4:c.991A>G MANE Select | NP_000760.1:p.Ile331Val |