HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122461651C>T , CM000672.2:g.122461651C>T | GRCh38 |
NC_000010.10:g.124221167C>T , CM000672.1:g.124221167C>T | GRCh37 |
NC_000010.9:g.124211157C>T | NCBI36 |
NG_011554.1:g.5127C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.-2C>T MANE Select | ENSP00000357980.3:n.-2C>T | |
ENST00000648167.1:c.154+2942C>T | ENSP00000498033.1:n.154+2942C>T | |
ENST00000368984.7:c.-2C>T | ENSP00000357980.3:n.-2C>T | |
NM_002775.4:c.-2C>T | NP_002766.1:n.-2C>T | |
NM_002775.5:c.-2C>T MANE Select | NP_002766.1:n.-2C>T |