HGVS | Genome Assembly |
---|---|
NC_000023.11:g.106033532G>C , CM000685.2:g.106033532G>C | GRCh38 |
NC_000023.10:g.105277523G>C , CM000685.1:g.105277523G>C | GRCh37 |
NC_000023.9:g.105164179G>C | NCBI36 |
NG_021252.1:g.10196C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372563.2:c.1216C>G MANE Select | ENSP00000361644.1:p.Leu406Val | |
ENST00000327674.8:c.1216C>G | ENSP00000329374.4:p.Leu406Val | |
ENST00000372563.1:c.1216C>G | ENSP00000361644.1:p.Leu406Val | |
NM_000354.5:c.1216C>G | NP_000345.2:p.Leu406Val | |
XM_006724683.1:c.1246C>G | XP_006724746.1:p.Leu416Val | |
XM_005262180.4:c.*161C>G | XP_005262237.1:n.*161C>G | |
XM_006724683.2:c.1246C>G | XP_006724746.1:p.Leu416Val | |
NM_000354.6:c.1216C>G MANE Select | NP_000345.2:p.Leu406Val |