HGVS | Genome Assembly |
---|---|
NC_000021.9:g.41741157C>G , CM000683.2:g.41741157C>G | GRCh38 |
NC_000021.8:g.43161317C>G , CM000683.1:g.43161317C>G | GRCh37 |
NC_000021.7:g.42034386C>G | NCBI36 |
NG_032113.1:g.30933G>C | |
NG_032113.2:g.30933G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332512.8:c.2036G>C MANE Select | ENSP00000332454.3:p.Arg679Pro | |
ENST00000332512.7:c.2036G>C | ENSP00000332454.3:p.Arg679Pro | |
ENST00000352483.3:c.2180G>C | ENSP00000330161.2:p.Arg727Pro | |
NM_020639.2:c.2036G>C | NP_065690.2:p.Arg679Pro | |
NM_020639.3:c.2036G>C MANE Select | NP_065690.2:p.Arg679Pro |