HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81365404C>G , CM000678.2:g.81365404C>G | GRCh38 |
NC_000016.9:g.81399009C>G , CM000678.1:g.81399009C>G | GRCh37 |
NC_000016.8:g.79956510C>G | NCBI36 |
NG_009007.1:g.55439C>G , LRG_242:g.55439C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*1136C>G | ENSP00000498114.1:n.*1136C>G | |
ENST00000648994.2:c.1428C>G MANE Select | ENSP00000497351.1:p.Val476= | |
ENST00000650388.1:c.962C>G | ENSP00000498081.1:n.962C>G | |
ENST00000568107.2:c.1428C>G | ENSP00000476795.1:p.Val476= | |
NM_022041.3:c.1428C>G , LRG_242t1:c.1428C>G | NP_071324.1:p.Val476= | |
XM_017023734.1:c.789C>G | XP_016879223.1:p.Val263= | |
NM_001377486.1:c.789C>G | NP_001364415.1:p.Val263= | |
NM_022041.4:c.1428C>G MANE Select | NP_071324.1:p.Val476= |