HGVS | Genome Assembly |
---|---|
NC_000005.10:g.76727604T>C , CM000667.2:g.76727604T>C | GRCh38 |
NC_000005.9:g.76023429T>C , CM000667.1:g.76023429T>C | GRCh37 |
NC_000005.8:g.76059185T>C | NCBI36 |
NG_032906.1:g.16562T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000319211.5:c.89-4710T>C MANE Select | ENSP00000321326.4:n.89-4710T>C | |
ENST00000319211.4:c.89-4710T>C | ENSP00000321326.4:n.89-4710T>C | |
NM_001311313.1:c.-397-1108T>C | NP_001298242.1:n.-397-1108T>C | |
NM_001992.3:c.89-4710T>C | NP_001983.2:n.89-4710T>C | |
NM_001992.4:c.89-4710T>C | NP_001983.2:n.89-4710T>C | |
NM_001992.5:c.89-4710T>C MANE Select | NP_001983.2:n.89-4710T>C | |
NM_001311313.2:c.-397-1108T>C | NP_001298242.1:n.-397-1108T>C |