HGVS | Genome Assembly |
---|---|
NC_000021.9:g.41756656A>G , CM000683.2:g.41756656A>G | GRCh38 |
NC_000021.8:g.43176816A>G , CM000683.1:g.43176816A>G | GRCh37 |
NC_000021.7:g.42049885A>G | NCBI36 |
NG_032113.1:g.15434T>C | |
NG_032113.2:g.15434T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332512.8:c.343T>C MANE Select | ENSP00000332454.3:p.Trp115Arg | |
ENST00000332512.7:c.343T>C | ENSP00000332454.3:p.Trp115Arg | |
ENST00000352483.3:c.343T>C | ENSP00000330161.2:p.Trp115Arg | |
NM_020639.2:c.343T>C | NP_065690.2:p.Trp115Arg | |
NM_020639.3:c.343T>C MANE Select | NP_065690.2:p.Trp115Arg |