HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94763350G>T , CM000672.2:g.94763350G>T | GRCh38 |
NC_000010.10:g.96523107G>T , CM000672.1:g.96523107G>T | GRCh37 |
NC_000010.9:g.96513097G>T | NCBI36 |
NG_008384.2:g.5645G>T | |
NG_008384.3:g.5670G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.168+477G>T MANE Select | ENSP00000360372.3:n.168+477G>T | |
ENST00000371321.7:c.168+477G>T | ENSP00000360372.3:n.168+477G>T | |
ENST00000464755.1:c.932-11708G>T | ENSP00000483243.1:n.932-11708G>T | |
ENST00000480405.2:c.168+477G>T | ENSP00000483847.1:n.168+477G>T | |
NM_000769.2:c.168+477G>T | NP_000760.1:n.168+477G>T | |
NM_000769.4:c.168+477G>T MANE Select | NP_000760.1:n.168+477G>T |