HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136673907G>C , CM000671.2:g.136673907G>C | GRCh38 |
NC_000009.11:g.139568359G>C , CM000671.1:g.139568359G>C | GRCh37 |
NC_000009.10:g.138688180G>C | NCBI36 |
NG_008090.1:g.18553C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371696.7:c.682C>G MANE Select | ENSP00000360761.2:p.Leu228Val | |
ENST00000371694.7:c.586C>G | ENSP00000360759.3:p.Leu196Val | |
ENST00000371696.6:c.682C>G | ENSP00000360761.2:p.Leu228Val | |
ENST00000472820.1:n.610C>G | ||
ENST00000538402.1:c.682C>G | ENSP00000438919.1:p.Leu228Val | |
NM_001012727.1:c.586C>G | NP_001012745.1:p.Leu196Val | |
NM_006412.3:c.682C>G | NP_006403.2:p.Leu228Val | |
NM_006412.4:c.682C>G MANE Select | NP_006403.2:p.Leu228Val | |
NM_001012727.2:c.586C>G | NP_001012745.1:p.Leu196Val |