HGVS | Genome Assembly |
---|---|
NC_000010.11:g.97598809T>C , CM000672.2:g.97598809T>C | GRCh38 |
NC_000010.10:g.99358566T>C , CM000672.1:g.99358566T>C | GRCh37 |
NC_000010.9:g.99348556T>C | NCBI36 |
NG_027922.1:g.19465T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370646.9:c.246T>C MANE Select | ENSP00000359680.4:p.Pro82= | |
ENST00000370646.8:c.246T>C | ENSP00000359680.4:p.Pro82= | |
ENST00000370647.8:c.212-3048T>C | ENSP00000359681.4:n.212-3048T>C | |
ENST00000370649.3:c.212-3048T>C | ENSP00000359683.3:n.212-3048T>C | |
ENST00000465608.1:n.627T>C | ||
NM_001134670.1:c.212-3048T>C | NP_001128142.1:n.212-3048T>C | |
NM_138413.3:c.246T>C | NP_612422.2:p.Pro82= | |
NM_138413.4:c.246T>C MANE Select | NP_612422.2:p.Pro82= | |
NM_001134670.2:c.212-3048T>C | NP_001128142.1:n.212-3048T>C |