HGVS | Genome Assembly |
---|---|
NC_000005.10:g.76731998A>C , CM000667.2:g.76731998A>C | GRCh38 |
NC_000005.9:g.76027823A>C , CM000667.1:g.76027823A>C | GRCh37 |
NC_000005.8:g.76063579A>C | NCBI36 |
NG_032906.1:g.20956A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319211.5:c.89-316A>C MANE Select | ENSP00000321326.4:n.89-316A>C | |
ENST00000319211.4:c.89-316A>C | ENSP00000321326.4:n.89-316A>C | |
NM_001311313.1:c.-275-316A>C | NP_001298242.1:n.-275-316A>C | |
NM_001992.3:c.89-316A>C | NP_001983.2:n.89-316A>C | |
NM_001992.4:c.89-316A>C | NP_001983.2:n.89-316A>C | |
NM_001992.5:c.89-316A>C MANE Select | NP_001983.2:n.89-316A>C | |
NM_001311313.2:c.-275-316A>C | NP_001298242.1:n.-275-316A>C |