HGVS | Genome Assembly |
---|---|
NC_000022.11:g.45293276C>G , CM000684.2:g.45293276C>G | GRCh38 |
NC_000022.10:g.45689157C>G , CM000684.1:g.45689157C>G | GRCh37 |
NC_000022.9:g.44067821C>G | NCBI36 |
NG_016203.1:g.13290C>G | |
NG_016203.2:g.13290C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216211.9:c.667C>G MANE Select | ENSP00000216211.4:p.Leu223Val | |
ENST00000216211.8:c.667C>G | ENSP00000216211.4:p.Leu223Val | |
ENST00000396082.2:c.304C>G | ENSP00000379391.2:p.Leu102Val | |
NM_001167574.1:c.304C>G | NP_001161046.1:p.Leu102Val | |
NM_006953.3:c.667C>G | NP_008884.1:p.Leu223Val | |
XM_011530364.1:c.673C>G | XP_011528666.1:p.Leu225Val | |
XM_011530365.1:c.310C>G | XP_011528667.1:p.Leu104Val | |
NM_006953.4:c.667C>G MANE Select | NP_008884.1:p.Leu223Val | |
NM_001167574.2:c.304C>G | NP_001161046.1:p.Leu102Val |