HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81365354G>C , CM000678.2:g.81365354G>C | GRCh38 |
NC_000016.9:g.81398959G>C , CM000678.1:g.81398959G>C | GRCh37 |
NC_000016.8:g.79956460G>C | NCBI36 |
NG_009007.1:g.55389G>C , LRG_242:g.55389G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*1086G>C | ENSP00000498114.1:n.*1086G>C | |
ENST00000648994.2:c.1378G>C MANE Select | ENSP00000497351.1:p.Gly460Arg | |
ENST00000650388.1:c.912G>C | ENSP00000498081.1:n.912G>C | |
ENST00000568107.2:c.1378G>C | ENSP00000476795.1:p.Gly460Arg | |
NM_022041.3:c.1378G>C , LRG_242t1:c.1378G>C | NP_071324.1:p.Gly460Arg | |
XM_017023734.1:c.739G>C | XP_016879223.1:p.Gly247Arg | |
NM_001377486.1:c.739G>C | NP_001364415.1:p.Gly247Arg | |
NM_022041.4:c.1378G>C MANE Select | NP_071324.1:p.Gly460Arg |