HGVS | Genome Assembly |
---|---|
NC_000023.11:g.53378022T>A , CM000685.2:g.53378022T>A | GRCh38 |
NC_000023.10:g.53404943T>A , CM000685.1:g.53404943T>A | GRCh37 |
NC_000023.9:g.53421668T>A | NCBI36 |
NG_006988.2:g.49649A>T , LRG_773:g.49649A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000322213.9:c.*2081A>T MANE Select | ENSP00000323421.3:n.*2081A>T | |
ENST00000675504.1:c.*2081A>T | ENSP00000502524.1:n.*2081A>T | |
ENST00000322213.8:c.*2081A>T | ENSP00000323421.3:n.*2081A>T | |
ENST00000375340.10:c.*2081A>T | ENSP00000364489.7:n.*2081A>T | |
NM_001281463.1:c.*2081A>T , LRG_773t1:c.*2081A>T | NP_001268392.1:n.*2081A>T | |
NM_006306.3:c.*2081A>T , LRG_773t2:c.*2081A>T | NP_006297.2:n.*2081A>T | |
NM_006306.4:c.*2081A>T MANE Select | NP_006297.2:n.*2081A>T |