HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42909545G>T , CM000679.2:g.42909545G>T | GRCh38 |
NC_000017.10:g.41061562G>T , CM000679.1:g.41061562G>T | GRCh37 |
NC_000017.9:g.38315088G>T | NCBI36 |
NG_011808.1:g.13748G>T , LRG_147:g.13748G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.562+127G>T MANE Select | ENSP00000253801.1:n.562+127G>T | |
ENST00000253801.6:c.562+127G>T | ENSP00000253801.1:n.562+127G>T | |
ENST00000585489.1:c.447-1370G>T | ENSP00000466202.1:n.447-1370G>T | |
ENST00000592383.5:c.485+127G>T | ENSP00000465958.1:n.485+127G>T | |
NM_000151.3:c.562+127G>T | NP_000142.2:n.562+127G>T | |
NM_001270397.1:c.485+127G>T | NP_001257326.1:n.485+127G>T | |
NM_000151.4:c.562+127G>T MANE Select | NP_000142.2:n.562+127G>T | |
NM_001270397.2:c.485+127G>T | NP_001257326.1:n.485+127G>T |