HGVS | Genome Assembly |
---|---|
NC_000010.11:g.43130258T>G , CM000672.2:g.43130258T>G | GRCh38 |
NC_000010.10:g.43625706T>G , CM000672.1:g.43625706T>G | GRCh37 |
NC_000010.9:g.42945712T>G | NCBI36 |
NG_007489.1:g.58190T>G , LRG_518:g.58190T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000615310.5:c.*3504T>G | ENSP00000480088.2:n.*3504T>G | |
ENST00000683007.1:n.6297T>G | ||
ENST00000355710.8:c.*1989T>G MANE Select | ENSP00000347942.3:n.*1989T>G | |
ENST00000355710.7:c.*1989T>G | ENSP00000347942.3:n.*1989T>G | |
ENST00000615310.4:c.*2683T>G | ENSP00000480088.1:n.*2683T>G | |
NM_020975.4:c.*1989T>G , LRG_518t1:c.*1989T>G | NP_066124.1:n.*1989T>G | |
XM_011540027.1:c.*757T>G | XP_011538329.1:n.*757T>G | |
NM_020975.5:c.*1989T>G | NP_066124.1:n.*1989T>G | |
NM_020975.6:c.*1989T>G MANE Select | NP_066124.1:n.*1989T>G |