HGVS | Genome Assembly |
---|---|
NC_000005.10:g.76727607G>A , CM000667.2:g.76727607G>A | GRCh38 |
NC_000005.9:g.76023432G>A , CM000667.1:g.76023432G>A | GRCh37 |
NC_000005.8:g.76059188G>A | NCBI36 |
NG_032906.1:g.16565G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000319211.5:c.89-4707G>A MANE Select | ENSP00000321326.4:n.89-4707G>A | |
ENST00000319211.4:c.89-4707G>A | ENSP00000321326.4:n.89-4707G>A | |
NM_001311313.1:c.-397-1105G>A | NP_001298242.1:n.-397-1105G>A | |
NM_001992.3:c.89-4707G>A | NP_001983.2:n.89-4707G>A | |
NM_001992.4:c.89-4707G>A | NP_001983.2:n.89-4707G>A | |
NM_001992.5:c.89-4707G>A MANE Select | NP_001983.2:n.89-4707G>A | |
NM_001311313.2:c.-397-1105G>A | NP_001298242.1:n.-397-1105G>A |