HGVS | Genome Assembly |
---|---|
NC_000002.12:g.27085240A>C , CM000664.2:g.27085240A>C | GRCh38 |
NC_000002.11:g.27308108A>C , CM000664.1:g.27308108A>C | GRCh37 |
NC_000002.10:g.27161612A>C | NCBI36 |
NG_012199.1:g.3498A>C | |
NG_046849.1:g.11674A>C | |
NG_012199.2:g.3498A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380320.9:c.2656A>C MANE Select | ENSP00000369677.4:p.Thr886Pro | |
ENST00000380320.8:c.2656A>C | ENSP00000369677.4:p.Thr886Pro | |
ENST00000433140.1:c.648A>C | ||
NM_007046.3:c.2656A>C | NP_008977.1:p.Thr886Pro | |
XM_006711928.2:c.2575+232A>C | XP_006711991.1:n.2575+232A>C | |
NM_007046.4:c.2656A>C MANE Select | NP_008977.1:p.Thr886Pro |