HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81358040A= , CM000678.2:g.81358040A= | GRCh38 |
NC_000016.9:g.81391645A= , CM000678.1:g.81391645A= | GRCh37 |
NC_000016.8:g.79949146A= | NCBI36 |
NG_009007.1:g.48075A= , LRG_242:g.48075A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*681+109A= | ENSP00000498114.1:n.*681+109A= | |
ENST00000648994.2:c.973+109A= MANE Select | ENSP00000497351.1:n.973+109A= | |
ENST00000650388.1:c.507+109A= | ENSP00000498081.1:n.507+109A= | |
ENST00000568107.2:c.973+109A= | ENSP00000476795.1:n.973+109A= | |
NM_022041.3:c.973+109A= , LRG_242t1:c.973+109A= | NP_071324.1:n.973+109A= | |
XM_017023734.1:c.334+109A= | XP_016879223.1:n.334+109A= | |
NM_001377486.1:c.334+109A= | NP_001364415.1:n.334+109A= | |
NM_022041.4:c.973+109A= MANE Select | NP_071324.1:n.973+109A= |