HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443236C>G , CM000668.2:g.32443236C>G | GRCh38 |
NC_000006.11:g.32411013C>G , CM000668.1:g.32411013C>G | GRCh37 |
NC_000006.10:g.32518991C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395388.7:c.380C>G MANE Select | ENSP00000378786.2:p.Pro127Arg | |
ENST00000374982.5:c.329-24C>G | ENSP00000364121.5:n.329-24C>G | |
ENST00000395388.6:c.380C>G | ENSP00000378786.2:p.Pro127Arg | |
NM_019111.4:c.380C>G | NP_061984.2:p.Pro127Arg | |
NM_019111.5:c.380C>G MANE Select | NP_061984.2:p.Pro127Arg |