HGVS | Genome Assembly |
---|---|
NC_000007.14:g.75769698A>C , CM000669.2:g.75769698A>C | GRCh38 |
NC_000007.13:g.75399016A>C , CM000669.1:g.75399016A>C | GRCh37 |
NC_000007.12:g.75236952A>C | NCBI36 |
NG_015989.1:g.25049T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000005180.9:c.280T>G MANE Select | ENSP00000005180.4:p.Leu94Val | |
ENST00000005180.8:c.280T>G | ENSP00000005180.4:p.Leu94Val | |
ENST00000394905.2:c.280T>G | ENSP00000378365.2:p.Leu94Val | |
NM_006072.4:c.280T>G | NP_006063.1:p.Leu94Val | |
XM_017011671.1:c.442T>G | XP_016867160.1:p.Leu148Val | |
XM_017011672.1:c.280T>G | XP_016867161.1:p.Leu94Val | |
NM_001371936.1:c.280T>G | NP_001358865.1:p.Leu94Val | |
NM_001371938.1:c.280T>G MANE Select | NP_001358867.1:p.Leu94Val |