HGVS | Genome Assembly |
---|---|
NC_000001.11:g.153990817C>T , CM000663.2:g.153990817C>T | GRCh38 |
NC_000001.10:g.153963293C>T , CM000663.1:g.153963293C>T | GRCh37 |
NC_000001.9:g.152229917C>T | NCBI36 |
NG_053102.2:g.5063C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643794.1:c.6+15C>T | ENSP00000495765.1:n.6+15C>T | |
ENST00000651669.1:c.6+15C>T MANE Select | ENSP00000499044.1:n.6+15C>T | |
ENST00000368567.4:c.6+15C>T | ENSP00000357555.4:n.6+15C>T | |
ENST00000392558.4:c.6+15C>T | ENSP00000376341.4:n.6+15C>T | |
ENST00000477151.1:n.40+15C>T | ||
ENST00000493224.5:n.55C>T | ||
NM_001030.4:c.6+15C>T | NP_001021.1:n.6+15C>T | |
NM_001030.6:c.6+15C>T MANE Select | NP_001021.1:n.6+15C>T | |
NM_001349946.1:c.-212+15C>T | NP_001336875.1:n.-212+15C>T | |
NM_001349947.1:c.-308C>T | NP_001336876.1:n.-308C>T | |
NM_001349946.2:c.-212+15C>T | NP_001336875.1:n.-212+15C>T | |
NM_001349947.2:c.-308C>T | NP_001336876.1:n.-308C>T |