HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81354720A>G , CM000678.2:g.81354720A>G | GRCh38 |
NC_000016.9:g.81388325A>G , CM000678.1:g.81388325A>G | GRCh37 |
NC_000016.8:g.79945826A>G | NCBI36 |
NG_009007.1:g.44755A>G , LRG_242:g.44755A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*306A>G | ENSP00000498114.1:n.*306A>G | |
ENST00000648994.2:c.598A>G MANE Select | ENSP00000497351.1:p.Ile200Val | |
ENST00000650388.1:c.168-2065A>G | ENSP00000498081.1:n.168-2065A>G | |
ENST00000674788.1:n.723A>G | ||
ENST00000568107.2:c.598A>G | ENSP00000476795.1:p.Ile200Val | |
NM_022041.3:c.598A>G , LRG_242t1:c.598A>G | NP_071324.1:p.Ile200Val | |
XM_017023734.1:c.-42A>G | XP_016879223.1:n.-42A>G | |
NM_001377486.1:c.-42A>G | NP_001364415.1:n.-42A>G | |
NM_022041.4:c.598A>G MANE Select | NP_071324.1:p.Ile200Val |