HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128357350C>G , CM000667.2:g.128357350C>G | GRCh38 |
NC_000005.9:g.127693042C>G , CM000667.1:g.127693042C>G | GRCh37 |
NC_000005.8:g.127720941C>G | NCBI36 |
NG_008750.1:g.185694G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262464.9:c.2600G>C MANE Select | ENSP00000262464.4:p.Arg867Thr | |
ENST00000262464.8:c.2600G>C | ENSP00000262464.4:p.Arg867Thr | |
ENST00000508053.5:c.2600G>C | ENSP00000424571.1:p.Arg867Thr | |
ENST00000508989.5:c.2501G>C | ENSP00000425596.1:p.Arg834Thr | |
ENST00000619499.4:c.2597G>C | ENSP00000482132.1:p.Arg866Thr | |
NM_001999.3:c.2600G>C | NP_001990.2:p.Arg867Thr | |
XM_017009228.2:c.2447G>C | XP_016864717.1:p.Arg816Thr | |
NM_001999.4:c.2600G>C MANE Select | NP_001990.2:p.Arg867Thr |