HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81357906A>G , CM000678.2:g.81357906A>G | GRCh38 |
NC_000016.9:g.81391511A>G , CM000678.1:g.81391511A>G | GRCh37 |
NC_000016.8:g.79949012A>G | NCBI36 |
NG_009007.1:g.47941A>G , LRG_242:g.47941A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648349.2:c.*656A>G | ENSP00000498114.1:n.*656A>G | |
ENST00000648994.2:c.948A>G MANE Select | ENSP00000497351.1:p.Arg316= | |
ENST00000650388.1:c.482A>G | ENSP00000498081.1:n.482A>G | |
ENST00000568107.2:c.948A>G | ENSP00000476795.1:p.Arg316= | |
NM_022041.3:c.948A>G , LRG_242t1:c.948A>G | NP_071324.1:p.Arg316= | |
XM_017023734.1:c.309A>G | XP_016879223.1:p.Arg103= | |
NM_001377486.1:c.309A>G | NP_001364415.1:p.Arg103= | |
NM_022041.4:c.948A>G MANE Select | NP_071324.1:p.Arg316= |