HGVS | Genome Assembly |
---|---|
NC_000003.12:g.14130825C>T , CM000665.2:g.14130825C>T | GRCh38 |
NC_000003.11:g.14172325C>T , CM000665.1:g.14172325C>T | GRCh37 |
NC_000003.10:g.14147326C>T | NCBI36 |
NG_008975.1:g.10886C>T , LRG_435:g.10886C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000432444.2:c.*196C>T | ENSP00000395617.1:n.*196C>T | |
ENST00000306077.5:c.166C>T MANE Select | ENSP00000303992.5:p.Arg56Cys | |
ENST00000306077.4:c.166C>T | ENSP00000303992.4:p.Arg56Cys | |
ENST00000432444.1:c.*196C>T | ENSP00000395617.1:n.*196C>T | |
NM_024334.2:c.166C>T , LRG_435t1:c.166C>T | NP_077310.1:p.Arg56Cys | |
XM_011534109.1:c.61C>T | XP_011532411.1:p.Arg21Cys | |
XM_017007176.2:c.61C>T | XP_016862665.1:p.Arg21Cys | |
NM_024334.3:c.166C>T MANE Select | NP_077310.1:p.Arg56Cys |