HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42909507C>T , CM000679.2:g.42909507C>T | GRCh38 |
NC_000017.10:g.41061524C>T , CM000679.1:g.41061524C>T | GRCh37 |
NC_000017.9:g.38315050C>T | NCBI36 |
NG_011808.1:g.13710C>T , LRG_147:g.13710C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.562+89C>T MANE Select | ENSP00000253801.1:n.562+89C>T | |
ENST00000253801.6:c.562+89C>T | ENSP00000253801.1:n.562+89C>T | |
ENST00000585489.1:c.447-1408C>T | ENSP00000466202.1:n.447-1408C>T | |
ENST00000592383.5:c.485+89C>T | ENSP00000465958.1:n.485+89C>T | |
NM_000151.3:c.562+89C>T | NP_000142.2:n.562+89C>T | |
NM_001270397.1:c.485+89C>T | NP_001257326.1:n.485+89C>T | |
NM_000151.4:c.562+89C>T MANE Select | NP_000142.2:n.562+89C>T | |
NM_001270397.2:c.485+89C>T | NP_001257326.1:n.485+89C>T |