HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39665831C>T , CM000679.2:g.39665831C>T | GRCh38 |
NC_000017.10:g.37822084C>T , CM000679.1:g.37822084C>T | GRCh37 |
NC_000017.9:g.35075610C>T | NCBI36 |
NG_008892.1:g.5486C>T , LRG_210:g.5486C>T | |
NG_042278.1:g.2851C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309889.3:c.226C>T MANE Select | ENSP00000312624.2:p.Arg76Cys | |
ENST00000309889.2:c.226C>T | ENSP00000312624.2:p.Arg76Cys | |
ENST00000578283.1:c.175-21C>T | ENSP00000462787.1:n.175-21C>T | |
NM_003673.3:c.226C>T , LRG_210t1:c.226C>T | NP_003664.1:p.Arg76Cys | |
NM_003673.4:c.226C>T MANE Select | NP_003664.1:p.Arg76Cys |