HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81354461A>G , CM000678.2:g.81354461A>G | GRCh38 |
NC_000016.9:g.81388066A>G , CM000678.1:g.81388066A>G | GRCh37 |
NC_000016.8:g.79945567A>G | NCBI36 |
NG_009007.1:g.44496A>G , LRG_242:g.44496A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648349.2:c.*47A>G | ENSP00000498114.1:n.*47A>G | |
ENST00000648994.2:c.339A>G MANE Select | ENSP00000497351.1:p.Leu113= | |
ENST00000650388.1:c.168-2324A>G | ENSP00000498081.1:n.168-2324A>G | |
ENST00000674788.1:n.464A>G | ||
ENST00000568107.2:c.339A>G | ENSP00000476795.1:p.Leu113= | |
NM_022041.3:c.339A>G , LRG_242t1:c.339A>G | NP_071324.1:p.Leu113= | |
XM_017023734.1:c.-301A>G | XP_016879223.1:n.-301A>G | |
NM_001377486.1:c.-301A>G | NP_001364415.1:n.-301A>G | |
NM_022041.4:c.339A>G MANE Select | NP_071324.1:p.Leu113= |