HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154194T>G , CM000681.2:g.55154194T>G | GRCh38 |
NC_000019.9:g.55665562T>G , CM000681.1:g.55665562T>G | GRCh37 |
NC_000019.8:g.60357374T>G | NCBI36 |
NG_007866.2:g.8539A>C , LRG_432:g.8539A>C | |
NG_011829.2:g.45A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.385A>C MANE Select | ENSP00000341838.5:p.Thr129Pro | |
ENST00000665070.1:c.418A>C | ENSP00000499482.1:p.Thr140Pro | |
ENST00000344887.9:c.385A>C | ENSP00000341838.5:p.Thr129Pro | |
ENST00000585806.5:n.384A>C | ||
ENST00000586669.5:n.393A>C | ||
ENST00000588882.1:c.310A>C | ENSP00000466729.1:p.Thr104Pro | |
ENST00000589864.1:n.213A>C | ||
NM_000363.4:c.385A>C , LRG_432t1:c.385A>C | NP_000354.4:p.Thr129Pro | |
NM_000363.5:c.385A>C MANE Select | NP_000354.4:p.Thr129Pro |