HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190408427T>C , CM000665.2:g.190408427T>C | GRCh38 |
NC_000003.11:g.190126216T>C , CM000665.1:g.190126216T>C | GRCh37 |
NC_000003.10:g.191608910T>C | NCBI36 |
NG_008149.1:g.25376T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264734.3:c.496T>C MANE Select | ENSP00000264734.3:p.Cys166Arg | |
ENST00000456423.2:c.115-1476T>C | ENSP00000414136.2:n.115-1476T>C | |
ENST00000264734.2:c.706T>C | ENSP00000264734.2:p.Cys236Arg | |
ENST00000456423.1:c.325-1476T>C | ENSP00000414136.1:n.325-1476T>C | |
NM_006580.3:c.706T>C | NP_006571.1:p.Cys236Arg | |
NM_001378492.1:c.496T>C | NP_001365421.1:p.Cys166Arg | |
NM_001378493.1:c.496T>C | NP_001365422.1:p.Cys166Arg | |
NM_006580.4:c.496T>C MANE Select | NP_006571.2:p.Cys166Arg |