HGVS | Genome Assembly |
---|---|
NC_000005.10:g.76727597A>G , CM000667.2:g.76727597A>G | GRCh38 |
NC_000005.9:g.76023422A>G , CM000667.1:g.76023422A>G | GRCh37 |
NC_000005.8:g.76059178A>G | NCBI36 |
NG_032906.1:g.16555A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000319211.5:c.89-4717A>G MANE Select | ENSP00000321326.4:n.89-4717A>G | |
ENST00000319211.4:c.89-4717A>G | ENSP00000321326.4:n.89-4717A>G | |
NM_001311313.1:c.-397-1115A>G | NP_001298242.1:n.-397-1115A>G | |
NM_001992.3:c.89-4717A>G | NP_001983.2:n.89-4717A>G | |
NM_001992.4:c.89-4717A>G | NP_001983.2:n.89-4717A>G | |
NM_001992.5:c.89-4717A>G MANE Select | NP_001983.2:n.89-4717A>G | |
NM_001311313.2:c.-397-1115A>G | NP_001298242.1:n.-397-1115A>G |