HGVS | Genome Assembly |
---|---|
NC_000001.11:g.111486604C>G , CM000663.2:g.111486604C>G | GRCh38 |
NC_000001.10:g.112029226C>G , CM000663.1:g.112029226C>G | GRCh37 |
NC_000001.9:g.111830749C>G | NCBI36 |
NG_032119.1:g.82372G>C , LRG_424:g.82372G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369716.9:c.854G>C MANE Select | ENSP00000358730.4:p.Arg285Pro | |
ENST00000369716.8:c.854G>C | ENSP00000358730.4:p.Arg285Pro | |
ENST00000369717.8:c.611G>C | ENSP00000358731.4:p.Arg204Pro | |
ENST00000414219.5:c.434G>C | ENSP00000415646.2:p.Arg145Pro | |
ENST00000442484.2:n.433G>C | ||
ENST00000443498.5:c.329G>C | ENSP00000398770.1:p.Arg110Pro | |
ENST00000472933.2:c.197G>C | ENSP00000488683.1:p.Arg66Pro | |
NM_001081976.2:c.611G>C | NP_001075445.1:p.Arg204Pro | |
NM_001302680.1:c.347G>C | NP_001289609.1:p.Arg116Pro | |
NM_020683.6:c.854G>C | NP_065734.5:p.Arg285Pro | |
NM_020683.7:c.854G>C MANE Select | NP_065734.5:p.Arg285Pro | |
NM_001081976.3:c.611G>C | NP_001075445.1:p.Arg204Pro | |
NM_001302680.2:c.347G>C | NP_001289609.1:p.Arg116Pro |