HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119676929A>C , CM000672.2:g.119676929A>C | GRCh38 |
NC_000010.10:g.121436441A>C , CM000672.1:g.121436441A>C | GRCh37 |
NC_000010.9:g.121426431A>C | NCBI36 |
NG_016125.1:g.30560A>C , LRG_742:g.30560A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369085.8:c.1375A>C MANE Select | ENSP00000358081.4:p.Thr459Pro | |
ENST00000369085.7:c.1375A>C | ENSP00000358081.3:p.Thr459Pro | |
NM_004281.3:c.1375A>C , LRG_742t1:c.1375A>C | NP_004272.2:p.Thr459Pro | |
XM_005270287.1:c.1372A>C | XP_005270344.1:p.Thr458Pro | |
XM_005270287.2:c.1372A>C | XP_005270344.1:p.Thr458Pro | |
NM_004281.4:c.1375A>C MANE Select | NP_004272.2:p.Thr459Pro |