HGVS | Genome Assembly |
---|---|
NC_000003.12:g.184060025A>C , CM000665.2:g.184060025A>C | GRCh38 |
NC_000003.11:g.183777813A>C , CM000665.1:g.183777813A>C | GRCh37 |
NC_000003.10:g.185260507A>C | NCBI36 |
NG_012749.1:g.11979A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318351.2:c.1123A>C MANE Select | ENSP00000322617.1:p.Thr375Pro | |
ENST00000318351.1:c.1123A>C | ENSP00000322617.1:p.Thr375Pro | |
NM_130770.2:c.1123A>C | NP_570126.2:p.Thr375Pro | |
NM_130770.3:c.1123A>C MANE Select | NP_570126.2:p.Thr375Pro |