HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110601830T>G , CM000672.2:g.110601830T>G | GRCh38 |
NC_000010.10:g.112361588T>G , CM000672.1:g.112361588T>G | GRCh37 |
NC_000010.9:g.112351578T>G | NCBI36 |
NG_012217.1:g.39140T>G , LRG_774:g.39140T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.5071T>G | ||
ENST00000685743.1:n.2546T>G | ||
ENST00000686057.1:n.1189T>G | ||
ENST00000689321.1:n.1801T>G | ||
ENST00000689986.1:n.627T>G | ||
ENST00000361804.5:c.2838T>G MANE Select | ENSP00000354720.5:p.Leu946= | |
ENST00000361804.4:c.2838T>G | ENSP00000354720.4:p.Leu946= | |
NM_005445.3:c.2838T>G , LRG_774t1:c.2838T>G | NP_005436.1:p.Leu946= | |
NM_005445.4:c.2838T>G MANE Select | NP_005436.1:p.Leu946= |