HGVS | Genome Assembly |
---|---|
NC_000001.11:g.193251928T>G , CM000663.2:g.193251928T>G | GRCh38 |
NC_000001.10:g.193221058T>G , CM000663.1:g.193221058T>G | GRCh37 |
NC_000001.9:g.191487681T>G | NCBI36 |
NG_012691.1:g.134971T>G , LRG_507:g.134971T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367435.5:c.*1216T>G MANE Select | ENSP00000356405.4:n.*1216T>G | |
ENST00000635846.1:c.*1216T>G | ENSP00000490035.1:n.*1216T>G | |
ENST00000643006.1:c.*1722T>G | ENSP00000496633.1:n.*1722T>G | |
ENST00000367435.3:c.*1216T>G | ENSP00000356405.3:n.*1216T>G | |
NM_024529.4:c.*1216T>G , LRG_507t1:c.*1216T>G | NP_078805.3:n.*1216T>G | |
NM_024529.5:c.*1216T>G MANE Select | NP_078805.3:n.*1216T>G |