HGVS | Genome Assembly |
---|---|
NC_000023.11:g.53378107T>C , CM000685.2:g.53378107T>C | GRCh38 |
NC_000023.10:g.53405028T>C , CM000685.1:g.53405028T>C | GRCh37 |
NC_000023.9:g.53421753T>C | NCBI36 |
NG_006988.2:g.49564A>G , LRG_773:g.49564A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000322213.9:c.*1996A>G MANE Select | ENSP00000323421.3:n.*1996A>G | |
ENST00000675504.1:c.*1996A>G | ENSP00000502524.1:n.*1996A>G | |
ENST00000322213.8:c.*1996A>G | ENSP00000323421.3:n.*1996A>G | |
ENST00000375340.10:c.*1996A>G | ENSP00000364489.7:n.*1996A>G | |
NM_001281463.1:c.*1996A>G , LRG_773t1:c.*1996A>G | NP_001268392.1:n.*1996A>G | |
NM_006306.3:c.*1996A>G , LRG_773t2:c.*1996A>G | NP_006297.2:n.*1996A>G | |
NM_006306.4:c.*1996A>G MANE Select | NP_006297.2:n.*1996A>G |