HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81365422C>T , CM000678.2:g.81365422C>T | GRCh38 |
NC_000016.9:g.81399027C>T , CM000678.1:g.81399027C>T | GRCh37 |
NC_000016.8:g.79956528C>T | NCBI36 |
NG_009007.1:g.55457C>T , LRG_242:g.55457C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*1154C>T | ENSP00000498114.1:n.*1154C>T | |
ENST00000648994.2:c.1446C>T MANE Select | ENSP00000497351.1:p.Ala482= | |
ENST00000650388.1:c.980C>T | ENSP00000498081.1:n.980C>T | |
ENST00000567335.1:n.4C>T | ||
ENST00000568107.2:c.1446C>T | ENSP00000476795.1:p.Ala482= | |
NM_022041.3:c.1446C>T , LRG_242t1:c.1446C>T | NP_071324.1:p.Ala482= | |
XM_017023734.1:c.807C>T | XP_016879223.1:p.Ala269= | |
NM_001377486.1:c.807C>T | NP_001364415.1:p.Ala269= | |
NM_022041.4:c.1446C>T MANE Select | NP_071324.1:p.Ala482= |