HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572866A>T , CM000685.2:g.47572866A>T | GRCh38 |
NC_000023.10:g.47432265A>T , CM000685.1:g.47432265A>T | GRCh37 |
NC_000023.9:g.47317209A>T | NCBI36 |
NG_008437.1:g.51992T>A | |
NG_016339.1:g.16750A>T | |
NG_016339.2:g.16750A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295987.13:c.2116T>A MANE Select | ENSP00000295987.7:p.Ter706Arg | |
ENST00000340666.5:c.*68T>A | ENSP00000343206.4:n.*68T>A | |
ENST00000640721.1:c.166T>A | ENSP00000492857.1:p.Ter56Arg | |
ENST00000295987.11:c.2116T>A | ENSP00000295987.7:p.Ter706Arg | |
ENST00000340666.4:c.*68T>A | ENSP00000343206.4:n.*68T>A | |
NM_006950.3:c.2116T>A MANE Select | NP_008881.2:p.Ter706Arg | |
NM_133499.2:c.*68T>A | NP_598006.1:n.*68T>A |