HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256390C>T , CM000679.2:g.34256390C>T | GRCh38 |
NC_000017.10:g.32583409C>T , CM000679.1:g.32583409C>T | GRCh37 |
NC_000017.9:g.29607522C>T | NCBI36 |
NG_012123.1:g.6114C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580907.6:c.*47C>T | ENSP00000462156.1:n.*47C>T | |
ENST00000624362.2:n.1106C>T | ||
ENST00000225831.4:c.194+51C>T MANE Select | ENSP00000225831.4:n.194+51C>T | |
ENST00000580907.5:c.*47C>T | ENSP00000462156.1:n.*47C>T | |
ENST00000582017.1:n.183C>T | ||
NM_002982.3:c.194+51C>T | NP_002973.1:n.194+51C>T | |
NM_002982.4:c.194+51C>T MANE Select | NP_002973.1:n.194+51C>T |