HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94423098T>G , CM000669.2:g.94423098T>G | GRCh38 |
NC_000007.13:g.94052410T>G , CM000669.1:g.94052410T>G | GRCh37 |
NC_000007.12:g.93890346T>G | NCBI36 |
NG_007405.1:g.33538T>G , LRG_2:g.33538T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.2545T>G MANE Select | ENSP00000297268.6:p.Ser849Ala | |
ENST00000297268.10:c.2545T>G | ENSP00000297268.6:p.Ser849Ala | |
ENST00000481570.5:n.628T>G | ||
ENST00000497316.5:n.942T>G | ||
ENST00000620463.1:c.2539T>G | ENSP00000477719.1:p.Ser847Ala | |
NM_000089.3:c.2545T>G , LRG_2t1:c.2545T>G | NP_000080.2:p.Ser849Ala | |
NM_000089.4:c.2545T>G MANE Select | NP_000080.2:p.Ser849Ala |