HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919881T>A , CM000679.2:g.74919881T>A | GRCh38 |
NC_000017.10:g.72915976T>A , CM000679.1:g.72915976T>A | GRCh37 |
NC_000017.9:g.70427571T>A | NCBI36 |
NG_007882.1:g.8376A>T | |
NG_033062.1:g.607T>A | |
NG_007882.2:g.8383A>T | |
NG_033062.2:g.607T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.955A>T MANE Select | ENSP00000480279.1:p.Arg319Ter | |
ENST00000579243.1:c.*554A>T | ENSP00000462568.1:n.*554A>T | |
ENST00000614341.4:c.955A>T | ENSP00000480279.1:p.Arg319Ter | |
NM_001282489.2:c.646A>T | NP_001269418.1:p.Arg216Ter | |
NM_173477.4:c.955A>T | NP_775748.2:p.Arg319Ter | |
XM_011524296.1:c.646A>T | XP_011522598.1:p.Arg216Ter | |
XM_011524296.2:c.646A>T | XP_011522598.1:p.Arg216Ter | |
NM_173477.5:c.955A>T MANE Select | NP_775748.2:p.Arg319Ter | |
NM_001282489.3:c.646A>T | NP_001269418.1:p.Arg216Ter |