HGVS | Genome Assembly |
---|---|
NC_000001.11:g.25812720C>T , CM000663.2:g.25812720C>T | GRCh38 |
NC_000001.10:g.26139211C>T , CM000663.1:g.26139211C>T | GRCh37 |
NC_000001.9:g.26011798C>T | NCBI36 |
NG_009930.1:g.17545C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000354177.9:c.1144C>T | ENSP00000346109.5:p.Arg382Ter | |
ENST00000494537.2:c.1213C>T | ENSP00000508308.1:p.Arg405Ter | |
ENST00000361547.7:c.1315C>T MANE Select | ENSP00000355141.2:p.Arg439Ter | |
ENST00000354177.8:c.1213C>T | ENSP00000346109.4:p.Arg405Ter | |
ENST00000361547.6:c.1315C>T | ENSP00000355141.2:p.Arg439Ter | |
ENST00000374315.1:c.1213C>T | ENSP00000363434.1:p.Arg405Ter | |
ENST00000559265.1:n.255+841C>T | ||
ENST00000630065.2:c.-258C>T | ENSP00000487549.1:n.-258C>T | |
NM_020451.2:c.1315C>T | NP_065184.2:p.Arg439Ter | |
NM_206926.1:c.1213C>T | NP_996809.1:p.Arg405Ter | |
NM_020451.3:c.1315C>T MANE Select | NP_065184.2:p.Arg439Ter | |
NM_206926.2:c.1213C>T | NP_996809.1:p.Arg405Ter |