HGVS | Genome Assembly |
---|---|
NC_000003.12:g.184060154A>T , CM000665.2:g.184060154A>T | GRCh38 |
NC_000003.11:g.183777942A>T , CM000665.1:g.183777942A>T | GRCh37 |
NC_000003.10:g.185260636A>T | NCBI36 |
NG_012749.1:g.12108A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000318351.2:c.1146A>T MANE Select | ENSP00000322617.1:p.Pro382= | |
ENST00000318351.1:c.1146A>T | ENSP00000322617.1:p.Pro382= | |
NM_130770.2:c.1146A>T | NP_570126.2:p.Pro382= | |
NM_130770.3:c.1146A>T MANE Select | NP_570126.2:p.Pro382= |