HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128344338G>C , CM000667.2:g.128344338G>C | GRCh38 |
NC_000005.9:g.127680030G>C , CM000667.1:g.127680030G>C | GRCh37 |
NC_000005.8:g.127707929G>C | NCBI36 |
NG_008750.1:g.198706C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.3343+47C>G MANE Select | ENSP00000262464.4:n.3343+47C>G | |
ENST00000262464.8:c.3343+47C>G | ENSP00000262464.4:n.3343+47C>G | |
ENST00000508053.5:c.3343+47C>G | ENSP00000424571.1:n.3343+47C>G | |
ENST00000508989.5:c.3244+47C>G | ENSP00000425596.1:n.3244+47C>G | |
ENST00000619499.4:c.3340+47C>G | ENSP00000482132.1:n.3340+47C>G | |
NM_001999.3:c.3343+47C>G | NP_001990.2:n.3343+47C>G | |
XM_017009228.2:c.3190+47C>G | XP_016864717.1:n.3190+47C>G | |
NM_001999.4:c.3343+47C>G MANE Select | NP_001990.2:n.3343+47C>G |