HGVS | Genome Assembly |
---|---|
NC_000001.11:g.40784044C= , CM000663.2:g.40784044C= | GRCh38 |
NC_000001.10:g.41249716C= , CM000663.1:g.41249716C= | GRCh37 |
NC_000001.9:g.41022303C= | NCBI36 |
NG_008139.1:g.5033C= | |
NG_008139.2:g.5033C= | |
NG_008139.3:g.5258C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000347132.10:c.-50C= MANE Select | ENSP00000262916.6:n.-50C= | |
ENST00000347132.9:c.-50C= | ENSP00000262916.6:n.-50C= | |
NM_004700.3:c.-50C= | NP_004691.2:n.-50C= | |
NM_172163.2:c.-50C= | NP_751895.1:n.-50C= | |
NM_004700.4:c.-50C= MANE Select | NP_004691.2:n.-50C= | |
NM_172163.3:c.-50C= | NP_751895.1:n.-50C= |