HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94404576C>G , CM000669.2:g.94404576C>G | GRCh38 |
NC_000007.13:g.94033888C>G , CM000669.1:g.94033888C>G | GRCh37 |
NC_000007.12:g.93871824C>G | NCBI36 |
NG_007405.1:g.15016C>G , LRG_2:g.15016C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.300C>G MANE Select | ENSP00000297268.6:p.Gly100= | |
ENST00000297268.10:c.300C>G | ENSP00000297268.6:p.Gly100= | |
ENST00000620463.1:c.294C>G | ENSP00000477719.1:p.Gly98= | |
NM_000089.3:c.300C>G , LRG_2t1:c.300C>G | NP_000080.2:p.Gly100= | |
NM_000089.4:c.300C>G MANE Select | NP_000080.2:p.Gly100= |