HGVS | Genome Assembly |
---|---|
NC_000003.12:g.184060152C>G , CM000665.2:g.184060152C>G | GRCh38 |
NC_000003.11:g.183777940C>G , CM000665.1:g.183777940C>G | GRCh37 |
NC_000003.10:g.185260634C>G | NCBI36 |
NG_012749.1:g.12106C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000318351.2:c.1144C>G MANE Select | ENSP00000322617.1:p.Pro382Ala | |
ENST00000318351.1:c.1144C>G | ENSP00000322617.1:p.Pro382Ala | |
NM_130770.2:c.1144C>G | NP_570126.2:p.Pro382Ala | |
NM_130770.3:c.1144C>G MANE Select | NP_570126.2:p.Pro382Ala |